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Number of items: 1143.
1
100,000 Genomes Project Pilot Investigators;
Smedley, D;
Smith, KR;
Martin, A;
Thomas, EA;
McDonagh, EM;
Cipriani, V;
... Caulfield, M; + view all
(2021)
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report.
New England Journal of Medicine
, 385
(20)
pp. 1868-1880.
10.1056/NEJMoa2035790.
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Abani, O;
Abbas, A;
Abbas, F;
Abbas, M;
Abbasi, S;
Abbass, H;
Abbott, A;
... et alia, .; + view all
(2021)
Tocilizumab in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial.
The Lancet
, 397
(10285)
pp. 1637-1645.
10.1016/S0140-6736(21)00676-0.
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Abdel-Khalik, J;
Hearn, T;
Dickson, AL;
Crick, PJ;
Yutuc, E;
Austin-Muttit, K;
Bigger, BW;
... Wang, Y; + view all
(2021)
Bile Acid Biosynthesis in Smith-Lemli-Opitz Syndrome Bypassing Cholesterol: Potential Importance of Pathway Intermediates.
The Journal of Steroid Biochemistry and Molecular Biology
, 206
, Article 105794. 10.1016/j.jsbmb.2020.105794.
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Abdelnabi, R;
Foo, CS;
Kaptein, SJF;
Zhang, X;
Do, TND;
Langendries, L;
Vangeel, L;
... Neyts, J; + view all
(2021)
The combined treatment of Molnupiravir and Favipiravir results in a potentiation of antiviral efficacy in a SARS-CoV-2 hamster infection model.
EBioMedicine
, 72
, Article 103595. 10.1016/j.ebiom.2021.103595.
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Abdulkadir, M;
Yu, D;
Osiecki, L;
King, RA;
Fernandez, TV;
Brown, LW;
Cheon, K-A;
... Hoekstra, PJ; + view all
(2021)
Investigation of gene-environment interactions in relation to tic severity.
Journal of Neural Transmission
, 128
pp. 1757-1765.
10.1007/s00702-021-02396-y.
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Abdullahi, SU;
Wudil, BJ;
Bello-Manga, H;
Musa, AB;
Gambo, S;
Galadanci, NA;
Aminu, H;
... DeBaun, MR; + view all
(2021)
Primary prevention of stroke in children with sickle cell anemia in sub-Saharan Africa: rationale and design of phase III randomized clinical trial.
Pediatric Hematology and Oncology
, 38
(1)
pp. 49-64.
10.1080/08880018.2020.1810183.
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Acquilla, S;
Sibal, B;
Shukla, H;
Mathews, S;
Rai, GK;
Lakhanpaul, M;
(2021)
SARS-CoV-2 (COVID-19) and the lessons learned from global pandemic.
Indian Journal of Public Health
, 65
(3)
pp. 215-217.
10.4103/ijph.ijph_1759_21.
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Adams, SP;
Gravett, E;
Kent, N;
Kricke, S;
Ifederu, A;
Scoto, M;
Samsuddin, S;
(2021)
Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay.
International Journal of Neonatal Screening
, 7
(4)
, Article 69. 10.3390/ijns7040069.
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Adhya, D;
Swarup, V;
Nagy, R;
Dutan, L;
Shum, C;
Valencia-Alarcón, EP;
Jozwik, KM;
... Baron-Cohen, S; + view all
(2021)
Atypical Neurogenesis in Induced Pluripotent Stem Cells From Autistic Individuals.
Biological Psychiatry
, 89
(5)
pp. 486-496.
10.1016/j.biopsych.2020.06.014.
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Afonso Ribeiro, J;
Simeoni, S;
De Min, L;
Uchiyama, T;
Tung Lo, Y;
Solanky, N;
Garcia-Moreno, H;
... Panicker, JN; + view all
(2021)
Lower urinary tract and bowel dysfunction in spinocerebellar ataxias.
Annals of Clinical and Translational Neurology
, 8
(2)
pp. 321-331.
10.1002/acn3.51266.
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Agliardi, G;
Liuzzi, AR;
Hotblack, A;
De Feo, D;
Núñez, N;
Stowe, CL;
Friebel, E;
... Becher, B; + view all
(2021)
Intratumoral IL-12 delivery empowers CAR-T cell immunotherapy in a pre-clinical model of glioblastoma.
Nature Communications
, 12
, Article 444. 10.1038/s41467-020-20599-x.
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Aguilar, JI;
Cheng, MH;
Font, J;
Schwartz, AC;
Ledwitch, K;
Duran, A;
Mabry, SJ;
... Galli, A; + view all
(2021)
Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia.
eLife
, 10
, Article e68039. 10.7554/eLife.68039.
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Ahluwalia, TS;
Prins, BP;
Abdollahi, M;
Armstrong, NJ;
Aslibekyan, S;
Bain, L;
Jefferis, B;
... Alizadeh, BZ; + view all
(2021)
Genome-Wide Association Study of Circulating Interleukin 6 Levels Identifies Novel Loci.
Human Molecular Genetics
, 30
(5)
pp. 393-409.
10.1093/hmg/ddab023.
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Ahmed, SF;
Achermann, JC;
Alderson, J;
Crouch, NS;
Elford, S;
Hughes, IA;
Krone, NP;
... Turner, HE; + view all
(2021)
Society for Endocrinology UK Guidance On The Initial Evaluation Of A Suspected Difference or Disorder Of Sex Development (DSD) (Revised 2021).
Clinical Endocrinology
, 95
(6)
pp. 818-840.
10.1111/cen.14528.
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Akbarali, S;
Rahi, JS;
Dick, AD;
Parkash, K;
Etherton, K;
Edelsten, C;
Liu, X;
(2021)
Imaging based uveitis surveillance in juvenile idiopathic arthritis: feasibility, acceptability and diagnostic performance.
Arthritis & Rheumatology
, 73
(2)
pp. 330-335.
10.1002/art.41530.
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Akintomide, E;
Shah, B;
Sridharan, S;
Visram, S;
Sebire, NJ;
Peters, C;
(2021)
Clinical perception of effectiveness of virtual appointments and comparison with appointment outcomes at a specialist children's hospital.
Future Healthcare Journal
, 8
(3)
e660-e665.
10.7861/fhj.2021-0044.
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Alderson, P;
Bowman, D;
Brierley, J;
J. Elliott, M;
Kazmi, R;
Mendizabal-Espinosa, R;
Montgomery, J;
... Wellesley, H; + view all
(2021)
Living bioethics, clinical ethics committees and children's consent to heart surgery.
Clinical Ethics
10.1177/14777509211034145.
(In press).
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Aldinger, KA;
Thomson, Z;
Phelps, IG;
Haldipur, P;
Deng, M;
Timms, AE;
Hirano, M;
... Millen, KJ; + view all
(2021)
Spatial and cell type transcriptional landscape of human cerebellar development.
Nature Neuroscience
, 24
pp. 1163-1175.
10.1038/s41593-021-00872-y.
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Allinovi, Marco;
Hayes, Wesley;
(2021)
Simplified 8-site lung ultrasound examination to assess fluid overload in children on haemodialysis.
Clinical Kidney Journal
, 14
(7)
pp. 1851-1852.
10.1093/ckj/sfab041.
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Almossawi, O;
O’Brien, S;
Parslow, R;
Nadel, S;
Palla, L;
(2021)
A study of sex difference in infant mortality in UK pediatric intensive care admissions over an 11-year period.
Scientific Reports
, 11
(1)
, Article 21838. 10.1038/s41598-021-01173-x.
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Almossawi, O;
Friend, A;
Palla, L;
Feltbower, R;
De Stavola, B;
(2021)
Is there a sex difference in mortality rates for deaths occurring in paediatric intensive care units? Systematic literature review protocol.
BMJ Open
, 11
(2)
, Article e046794. 10.1136/bmjopen-2020-046794.
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Alrashidi, H;
Eaton, S;
Heales, S;
(2021)
Biochemical characterization of proliferative and differentiated SH-SY5Y cell line as a model for Parkinson’s disease.
Neurochemistry International
, 145
, Article 105009. 10.1016/j.neuint.2021.105009.
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Altmann, A;
Ryten, M;
Di Nunzio, M;
Ravizza, T;
Tolomeo, D;
Reynolds, RH;
Somani, A;
... Sisodiya, SM; + view all
(2021)
A systems-level analysis highlights microglial activation as a modifying factor in common epilepsies.
Neuropathology and Applied Neurobiology
10.1111/nan.12758.
(In press).
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Alves, CAPF;
Löbel, U;
Martin-Saavedra, JS;
Toescu, S;
Tsunemi, MH;
Teixeira, SR;
Mankad, K;
... D'Arco, F; + view all
(2021)
A Diagnostic Algorithm for Posterior Fossa Tumors in Children: A Validation Study.
American Journal of Neuroradiology
, 42
(5)
pp. 961-968.
10.3174/ajnr.A7057.
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Ambrosino, D;
Han, HH;
Hu, B;
Liang, J;
Clemens, R;
Johnson, M;
Siber, G;
(2021)
Immunogenicity of SCB-2019 Coronavirus Disease 2019 Vaccine Compared With 4 Approved Vaccines.
The Journal of Infectious Diseases
, Article jiab574. 10.1093/infdis/jiab574.
(In press).
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Amin, S;
Mallick, AA;
Edwards, H;
Cortina-Borja, M;
Laugharne, M;
Likeman, M;
O'Callaghan, FJK;
(2021)
The metformin in tuberous sclerosis (MiTS) study: A randomised double-blind placebo-controlled trial.
EClinicalMedicine
, Article 100715. 10.1016/j.eclinm.2020.100715.
(In press).
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Amor, F;
Vu Hong, A;
Corre, G;
Sanson, M;
Suel, L;
Blaie, S;
Servais, L;
... Israeli, D; + view all
(2021)
Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy.
Journal of Cachexia, Sarcopenia and Muscle
, 12
(3)
pp. 677-693.
10.1002/jcsm.12708.
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Anakor, E;
Le Gall, L;
Dumonceaux, J;
Duddy, WJ;
Duguez, S;
(2021)
Exosomes in ageing and motor neurone disease: Biogenesis, uptake mechanisms, modifications in disease and uses in the development of biomarkers and therapeutics.
Cells
, 10
(11)
, Article 2930. 10.3390/cells10112930.
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Andersen, MS;
Bandres-Ciga, S;
Reynolds, RH;
Hardy, J;
Ryten, M;
Krohn, L;
Gan-Or, Z;
... Pihlstrøm, L; + view all
(2021)
Heritability enrichment implicates microglia in Parkinson's disease pathogenesis.
Annals of Neurology
, 89
(5)
pp. 942-951.
10.1002/ana.26032.
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Andina, D;
Belloni-Fortina, A;
Bodemer, C;
Bonifazi, E;
Chiriac, A;
Colmenero, I;
Diociaiuti, A;
... ESPD Group for the Skin Manifestations of COVID-19; + view all
(2021)
Skin manifestations of COVID-19 in children: Part 1.
Clinical and Experimental Dermatology
, 46
(3)
pp. 444-450.
10.1111/ced.14481.
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Andina, D;
Belloni-Fortina, A;
Bodemer, C;
Bonifazi, E;
Chiriac, A;
Colmenero, I;
Diociaiuti, A;
... ESPD Group for the Skin Manifestations of COVID-19; + view all
(2021)
Skin manifestations of COVID‐19 in children: Part 2.
Clinical and Experimental Dermatology
, 46
(3)
pp. 451-461.
10.1111/ced.14482.
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Andina, D;
Belloni-Fortina, A;
Bodemer, C;
Bonifazi, E;
Chiriac, A;
Colmenero, I;
Diociaiuti, A;
... ESPD Group for the Skin Manifestations of COVID-19; + view all
(2021)
Skin manifestations of COVID‐19 in children: Part 3.
Clinical and Experimental Dermatology
, 46
(3)
pp. 462-472.
10.1111/ced.14483.
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Andraus, M;
Thorpe, J;
Tai, XY;
Ashby, S;
Hallab, A;
Ding, D;
Dugan, P;
... Sen, A; + view all
(2021)
Impact of the COVID-19 pandemic on people with epilepsy: Findings from the Brazilian arm of the COV-E study.
Epilepsy & Behavior
, 123
, Article 108261. 10.1016/j.yebeh.2021.108261.
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Anelone, A;
Hancock, E;
Klein, N;
Kim, P;
Spurgeon, S;
(2021)
Control theory helps to resolve the measles paradox.
Royal Society Open Science
, 8
(4)
, Article 201891. 10.1098/rsos.201891.
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Armitage, AJ;
Cohen, J;
Heys, M;
Hardelid, P;
Ward, A;
Eisen, S;
(2021)
Description and evaluation of a pathway for unaccompanied asylum-seeking children.
Archives of Disease in Childhood
10.1136/archdischild-2021-322319.
(In press).
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Armitage, AJ;
Heys, M;
Lut, I;
Hardelid, P;
(2021)
Health outcomes in international migrant children: protocol for a systematic review.
BMJ Open
, 11
(5)
, Article e041173. 10.1136/bmjopen-2020-041173.
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Arthur, F;
Harwood, R;
Allin, B;
Bethell, GS;
Boam, T;
Chhabra, S;
Eastwood, MP;
... Tullie, LGC; + view all
(2021)
Lockdown during the COVID-19 pandemic: impact on infants with pyloric stenosis.
Archives of Disease in Childhood
, 106
(8)
, Article e32. 10.1136/archdischild-2020-320544.
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Arthurs, OJ;
Oates, A;
Halliday, K;
(2021)
Paediatric radiology: child abuse imaging in the national spotlight.
Clinical Radiology
, 76
(9)
pp. 631-633.
10.1016/j.crad.2021.07.001.
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Arulkumaran, N;
Snow, TAC;
Kulkarni, A;
Brealey, D;
Rickman, HM;
Rees-Spear, C;
Spyer, MJ;
... Singer, M; + view all
(2021)
Influence of IL-6 levels on patient survival in COVID-19.
Journal of Critical Care
, 66
pp. 123-125.
10.1016/j.jcrc.2021.08.013.
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Arulkumaran, N;
Snow, TAC;
Kulkarni, A;
Brealey, D;
Rickman, HM;
Rees-Spear, C;
Spyer, MJ;
... Singer, M; + view all
(2021)
Sex differences in immunological responses to COVID-19: a cross-sectional analysis of a single-centre cohort.
British Journal of Anaesthesia
10.1016/j.bja.2021.05.013.
(In press).
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Asad, H;
Collins, IJ;
Goodall, RL;
Crichton, S;
Hill, T;
Doerholt, K;
Foster, C;
... Collaborative HIV Paediatric Study (CHIPS) Steering Committee, t; + view all
(2021)
Mortality and AIDS-defining events among young people following transition from paediatric to adult HIV care in the UK.
HIV Medicine
10.1111/hiv.13096.
(In press).
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Ayyash, Hani F;
Ogundele, Michael Oladipo;
Lynn, Richard M;
Schumm, Tanja-Sabine;
Ani, Cornelius;
(2021)
Involvement of community paediatricians in the care of children and young people with mental health difficulties in the UK: implications for case ascertainment by child and adolescent psychiatric, and paediatric surveillance systems.
BMJ Paediatrics Open
, 5
(1)
, Article e000713. 10.1136/bmjpo-2020-000713.
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Backeljauw, P;
Cappa, M;
Kiess, W;
Law, L;
Cookson, C;
Sert, C;
Whalen, J;
(2021)
Impact of short stature on quality of life: A systematic literature review.
Growth Hormone and IGF Research
, 57-58
, Article 101392. 10.1016/j.ghir.2021.101392.
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Bagkeris, Emmanouil;
(2021)
A study of frailty, falls, bone mineral density and fractures among HIV-positive and HIV-negative controls in England and Ireland, the POPPY study.
Doctoral thesis (Ph.D), UCL (University College London).
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Baker, V;
Nkhoma, K;
Trevelion, R;
Roach, A;
Winston, A;
Sabin, C;
Bristowe, K;
(2021)
"I have failed to separate my HIV from this pain": the challenge of managing chronic pain among people with HIV.
AIDS Care
10.1080/09540121.2020.1869148.
(In press).
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Baldelli, L;
Schade, S;
Jesús, S;
Schreglmann, SR;
Sambati, L;
Gómez-Garre, P;
Halsband, C;
... Provini, F; + view all
(2021)
Heterogeneity of prodromal Parkinson symptoms in siblings of Parkinson disease patients.
npj Parkinson's Disease
, 7
, Article 78. 10.1038/s41531-021-00219-1.
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Baldwin, Tomas;
(2021)
Identifying the downstream metabolic effects of exposure to decanoic acid.
Doctoral thesis (Ph.D), UCL (University College London).
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Balestrini, S;
Koepp, MJ;
Gandhi, S;
Rickman, HM;
Yen Shin, G;
Houlihan, CF;
Anders-Cannon, J;
... Sisodiya, SM; + view all
(2021)
Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy.
Epilepsy & Behavior
, 115
, Article 107602. 10.1016/j.yebeh.2020.107602.
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Balestrini, S;
Chiarello, D;
Gogou, M;
Silvennoinen, K;
Puvirajasinghe, C;
Jones, WD;
Reif, P;
... Sisodiya, SM; + view all
(2021)
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2020-325932.
(In press).
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Baltas, I;
Boshier, FAT;
Williams, CA;
Bayzid, N;
Cotic, M;
Guerra-Assunção, JA;
Irish-Tavares, D;
... Mahungu, TW; + view all
(2021)
Post-vaccination COVID-19: A case-control study and genomic analysis of 119 breakthrough infections in partially vaccinated individuals.
Clinical Infectious Diseases
, Article ciab714. 10.1093/cid/ciab714.
(In press).
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Baltas, I;
Stockdale, T;
Tausan, M;
Kashif, A;
Anwar, J;
Anvar, J;
Koutoumanou, E;
... Democratis, J; + view all
(2021)
Impact of antibiotic timing on mortality from Gram-negative bacteraemia in an English district general hospital: the importance of getting it right every time.
Journal of Antimicrobial Chemotherapy
, 76
(3)
pp. 813-819.
10.1093/jac/dkaa478.
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Baltas, I;
Stockdale, T;
Tausan, M;
Kashif, A;
Anwar, J;
Anvar, J;
Koutoumanou, E;
... Democratis, J; + view all
(2021)
Long-term outcome and risk factors for late mortality in Gram-negative bacteraemia: a retrospective cohort study.
Journal of Global Antimicrobial Resistance
, 25
pp. 187-192.
10.1016/j.jgar.2021.03.019.
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Bancroft, Elizabeth K;
Page, Elizabeth C;
Brook, Mark N;
Thomas, Sarah;
Taylor, Natalie;
Pope, Jennifer;
McHugh, Jana;
... Eeles, Rosalind A; + view all
(2021)
A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.
The Lancet Oncology
, 22
(11)
pp. 1618-1631.
10.1016/S1470-2045(21)00522-2.
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Bandyopadhyay, S;
Khan, DZ;
Marcus, HJ;
Schroeder, BE;
Patel, V;
O’Donnell, A;
Ahmed, S;
... Youssef, M; + view all
(2021)
CSF Rhinorrhea After Endonasal Intervention to the Skull Base (CRANIAL) — Part 2: Impact of COVID-19.
World Neurosurgery
, 149
e1090-e1097.
10.1016/j.wneu.2020.12.169.
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Baranello, G;
Gorni, K;
Daigl, M;
Kotzeva, A;
Evans, R;
Hawkins, N;
Scott, DA;
... Servais, L; + view all
(2021)
Prognostic factors and treatment-effect modifiers in spinal muscular atrophy.
Clinical Pharmacology and Therapeutics
10.1002/cpt.2247.
(In press).
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Baranello, G;
Darras, BT;
Day, JW;
Deconinck, N;
Klein, A;
Masson, R;
Mercuri, E;
... FIREFISH Working Group; + view all
(2021)
Risdiplam in Type 1 Spinal Muscular Atrophy.
New England Journal of Medicine
, 384
(10)
pp. 915-923.
10.1056/NEJMoa2009965.
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Barile, A;
Mills, P;
di Salvo, ML;
Graziani, C;
Bunik, V;
Clayton, P;
Contestabile, R;
(2021)
Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5 '-Phosphate Oxidase-Dependent Epilepsy.
International Journal of Molecular Sciences
, 22
(21)
, Article 12013. 10.3390/ijms222112013.
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Barisa, M;
Fowler, D;
Fisher, J;
(2021)
Interplay between γδT-Cell Metabolism and Tumour Microenvironment Offers Opportunities for Therapeutic Intervention.
Immunometabolism
, 3
(3)
, Article e210026. 10.20900/immunometab20210026.
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Barker, R;
Hartwell, G;
Bonell, C;
Egan, M;
Lock, K;
Viner, RM;
(2021)
Research priorities for mental health in schools in the wake of COVID-19.
Journal of Epidemiology and Community Health (JECH)
10.1136/jech-2021-217902.
(In press).
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Baruteau, J;
Cunningham, SC;
Yilmaz, BS;
Perocheau, DP;
Eaglestone, S;
Burke, D;
Thrasher, AJ;
... Gissen, P; + view all
(2021)
Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys.
Molecular Therapy - Methods & Clinical Development
, 23
pp. 135-146.
10.1016/j.omtm.2021.09.005.
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Baugh, JN;
Gielen, GH;
Van Vuurden, DG;
Veldhuijzen Van Zanten, SEM;
Hargrave, D;
Massimino, M;
Biassoni, V;
... Kramm, CM; + view all
(2021)
Transitioning to molecular diagnostics in pediatric high-grade glioma: Experiences with the 2016 WHO classification of CNS tumors.
Neuro-Oncology Advances
, 3
(1)
, Article vdab113. 10.1093/noajnl/vdab113.
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Beale, S;
Braithwaite, I;
Navaratnam, AM;
Hardelid, P;
Rodger, A;
Aryee, A;
Byrne, TE;
... Virus Watch Collaborative; + view all
(2021)
Deprivation and exposure to public activities during the COVID-19 pandemic in England and Wales.
Journal of Epidemiology & Community Health
10.1136/jech-2021-217076.
(In press).
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Beale, S;
Byrne, T;
Fragaszy, E;
Kovar, J;
Nguyen, V;
Aryee, A;
Fong, WLE;
... Hayward, AC; + view all
(2021)
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Characterization of the MurT/GatD complex in Mycobacterium tuberculosis towards validating a novel anti-tubercular drug target.
JAC-Antimicrobial Resistance
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Malik, Farihah;
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Innovative approaches to end TB in Pakistan: a review of TB REACH projects from 2010 to 2020.
Pakistan Journal of Public Health
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Where are the children in national hepatitis C policies? A global review of national strategic plans and guidelines.
JHEP Reports
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Health Expectations
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Maniou, E;
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(2021)
Morphometric biomechanics of mouse hindbrain neuropore closure.
Presented at: BSDB/Genetics Society Annual Spring Meeting 2021, Virtual conference.
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Maniou, E;
Staddon, MF;
Marshall, AR;
Greene, NDE;
Copp, AJ;
Banerjee, S;
Galea, GL;
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Hindbrain neuropore tissue geometry determines asymmetric cell-mediated closure dynamics in mouse embryos.
Proceedings of the National Academy of Sciences
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RIPK3-mediated cell death is involved in DUX4-mediated toxicity in facioscapulohumeral dystrophy.
Journal of Cachexia, Sarcopenia and Muscle
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Patient-reported outcomes in young adults with osteonecrosis secondary to developmental dysplasia of the hip - a longitudinal and cross-sectional evaluation.
BMC Musculoskeletal Disorders
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Patterns of anxiety and distress over 12 months following participation in HPV primary screening.
Sexually Transmitted Infections
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Marmoy, OR;
Kinsler, VA;
Henderson, RH;
Handley, SE;
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Misaligned foveal morphology and sector retinal dysfunction in AKT1-mosaic Proteus syndrome.
Documenta Ophthalmologica
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Saville, NM;
Manandhar, DS;
Cortina-Borja, M;
Reid, AM;
Wells, JCK;
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Independent associations of women's age at marriage and first pregnancy with their height in rural lowland Nepal.
American Journal of Physical Anthropology
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10.1002/ajpa.24168.
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Reid, AM;
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Quantifying the association of natal household wealth with women's early marriage in Nepal.
PeerJ
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Biosocial life-course factors associated with women's early marriage in rural India: The prospective longitudinal Pune Maternal Nutrition Study.
American Journal of Biological Anthropology
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Marshall, Abigail Rose;
(2021)
Biomechanical and genetic analysis of neural tube closure in the mouse embryo.
Doctoral thesis (Ph.D), UCL (University College London).
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Martin, DS;
McNeil, M;
Brew-Graves, C;
Filipe, H;
O’Driscoll, R;
Stevens, JL;
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A feasibility randomised controlled trial of targeted oxygen therapy in mechanically ventilated critically ill patients.
Journal of the Intensive Care Society
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The contribution of X-linked coding variation to severe developmental disorders.
Nature Communications
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Janus-faced EPHB4-associated disorders: novel pathogenic variants and unreported intrafamilial overlapping phenotypes.
Genetics in Medicine
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(2021)
Immunophenotype of systemic lupus erythematosus and Sjogren´s syndrome patients identified two endotypes with potential therapeutic implications.
Presented at: Lupus Academy 10th Annual Meeting, Virtual.
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Peng, J;
Robinson, G;
Naja, M;
Peckham, H;
Wu, W;
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(2021)
Immunophenotype of Sjögren´s syndrome and systemic lupus erythematosus patients identified two endotypes with potential therapeutic implications.
Presented at: EULAR 2021: European Congress of Rheumatology 2021, Virtual.
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Avdic-Belltheus, A;
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Mutshiya, T;
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Hypothermia is not therapeutic in a neonatal piglet model of inflammation-sensitized hypoxia-ischemia.
Pediatric Research
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Interferon-Gamma Release Assays Differentiate Between Mycobacterium avium Complex and Tuberculous Lymphadenitis in Children.
The Journal of Pediatrics
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(2021)
Association of Group A Streptococcus Exposure and Exacerbations of Chronic Tic Disorders: A Multinational Prospective Cohort Study.
Neurology
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Massaro, G;
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Waddington, SN;
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Gene Therapy for Lysosomal Storage Disorders: Ongoing Studies and Clinical Development.
Biomolecules
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Masson, R;
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Scoto, M;
Baranello, G;
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Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review.
Developmental Medicine and Child Neurology
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10.1111/dmcn.14798.
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Intestinal barrier dysfunction plays an integral role in arthritis pathology and can be targeted to ameliorate disease.
Med
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Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency.
Endocrinology, diabetes & metabolism case reports
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(2021)
Data Resource Profile: The Education and Child Health Insights from Linked Data (ECHILD) Database.
International Journal of Epidemiology
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(2021)
Treatment of Multisystem Inflammatory Syndrome in Children.
New England Journal of Medicine
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(2021)
A study protocol for the development of a SPIRIT extension for trials conducted using cohorts and routinely collected data (SPIRIT-ROUTINE) [version 1; peer review: awaiting peer review].
HRB Open Research
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(2021)
Ataluren delays loss of ambulation and respiratory decline in nonsense mutation Duchenne muscular dystrophy patients.
Journal of Comparative Effectiveness Research
10.2217/cer-2021-0196.
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McDonald, CM;
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Evaluating longitudinal therapy effects via the North Star Ambulatory Assessment.
Muscle & Nerve
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McGlacken-Byrne, SM;
Le Quesne Stabej, P;
Del Valle Torres, I;
Ocaka, L;
Gagunashvili, A;
Crespo, B;
Moreno, N;
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(2021)
ZSWIM7 is associated with human female meiosis and familial primary ovarian insufficiency.
The Journal of clinical endocrinology and metabolism
10.1210/clinem/dgab597.
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McKay, AJ;
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Nugawela, MD;
Sathish, T;
Majeed, A;
Vamos, E;
Molina, G;
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Associations between attainment of incentivized primary care indicators and incident sight-threatening diabetic retinopathy in England: A population-based historical cohort study.
Diabetes, Obesity and Metabolism
10.1111/dom.14344.
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McKenna, Caoimhe;
(2021)
The health and care of children with Down Syndrome.
Doctoral thesis (M.D(Res)), UCL (University College London).
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McKenna, HT;
O'Brien, KA;
Fernandez, BO;
Minnion, M;
Tod, A;
McNally, BD;
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Divergent trajectories of cellular bioenergetics, intermediary metabolism and systemic redox status in survivors and non-survivors of critical illness.
Redox Biology
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McNamee, MJ;
Michod, D;
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Can small molecular inhibitors that stop de novo serine synthesis be used in cancer treatment?
Cell Death Discovery
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Rossignoli, G;
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Barral, S;
Kurian, MA;
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Genome Editing in iPSC-Based Neural Systems: From Disease Models to Future Therapeutic Strategies.
Frontiers in Genome Editing
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Cardinale, D;
Gallo, SC;
Lee, DDH;
Scott, DA;
Dong, H;
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α-Helical Peptides on Plasma-Treated Polymers Promote Ciliation of Airway Epithelial Cells.
Materials Science and Engineering: C
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Chilblain-like acral lesions in long COVID-19: management and implications for understanding microangiopathy.
The Lancet Infectious Diseases
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10.1016/s1473-3099(21)00133-x.
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Anderson, J;
Hargrave, D;
Salomoni, P;
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Alcohol-abuse drug disulfiram targets pediatric glioma via MLL degradation.
Cell Death & Disease
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Melendez-Torres, GJ;
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Effects of a Whole-School Health Intervention on Clustered Adolescent Health Risks: Latent Transition Analysis of Data from the INCLUSIVE Trial.
Prevention Science
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Warren, E;
Viner, R;
Allen, E;
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Moderated mediation analyses to assess intervention mechanisms for impacts on victimisation, psycho-social problems and mental wellbeing: Evidence from the INCLUSIVE realist randomized trial.
Social Science & Medicine
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Schifferli, MT;
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Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant.
Movement Disorder
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Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia.
Journal of Clinical Investigation (JCI)
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Recurrent emergence of SARS-CoV-2 spike deletion H69/V70 and its role in the Alpha variant B.1.1.7.
Cell Reports
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T cell phenotype in paediatric heart transplant recipients.
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Criteria for Pediatric Sepsis-A Systematic Review and Meta-Analysis by the Pediatric Sepsis Definition Taskforce.
Critical Care Medicine
10.1097/CCM.0000000000005294.
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Meran, Lawen;
(2021)
Bioengineering Functional Human Jejunal Grafts for Intestinal Failure.
Doctoral thesis (Ph.D), UCL (University College London).
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Mertan, E;
Croucher, L;
Shafran, R;
Bennett, S;
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An Investigation of the Information Provided to the Parents of Young People with Mental Health Needs on an Internet Forum.
Internet Research
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Meshaka, R;
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Sebire, NJ;
Shelmerdine, SC;
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Artificial intelligence reporting guidelines: what the pediatric radiologist needs to know.
Pediatric Radiology
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Metryka, A;
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Lakhanpaul, M;
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(2021)
Study protocol for randomised clinical trial comparing the effectiveness of side-lying sleep positioning to back-lying at reducing oxygen desaturation resulting from obstructive sleep apnoea in infants with cleft palate (SLUMBRS2).
BMJ Open
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Meulmeester, Fleur L;
Luo, Jiao;
Martens, Leon G;
Ashrafi, Nadia;
de Mutsert, Renee;
Mook-Kanamori, Dennis O;
Lamb, Hildo J;
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(2021)
Association of measures of body fat with serum alpha-tocopherol and its metabolites in middle-aged individuals.
Nutrition, Metabolism & Cardiovascular Diseases
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Gundo, R;
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(2021)
Admissions to a Low-Resource Neonatal Unit in Malawi Using a Mobile App and Dashboard: A 1-Year Digital Perinatal Outcome Audit.
Frontiers in Digital Health
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Miah, M;
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Considering the Cellular Composition of Olfactory Ensheathing Cell Transplants for Spinal Cord Injury Repair: A Review of the Literature.
Frontiers in Cellular Neuroscience
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Michelozzi, I;
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Driving CAR T Stem Cell Targeting in Acute Myeloid Leukemia: The Roads to Success.
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The Reflective Fostering Programme-improving the wellbeing of children in care through a group intervention for foster carers: a randomised controlled trial.
Trials
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Milano, EG;
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3D Printing and Engineering Tools Relevant to Plan a Transcatheter Procedure.
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Associations between early marriage and preterm delivery: Evidence from lowland Nepal.
American Journal of Human Biology
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Pain-Related Injustice Appraisals in Youth with Sickle Cell Disease: A Preliminary Investigation.
Pain Medicine
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(2021)
Investigating and treating severe bladder malformations using the T30H mouse model.
Doctoral thesis (M.Phil), UCL (University College London).
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Milne-Ives, M;
Neill, S;
Bayes, N;
Blair, M;
Blewitt, J;
Bray, L;
Carrol, ED;
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Impact of Digital Educational Interventions to Support Parents Caring for Acutely Ill Children at Home and Factors That Affect Their Use: Protocol for a Systematic Review.
JMIR Research Protocols
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Global network analysis in Schizosaccharomyces pombe reveals three distinct consequences of the common 1-kb deletion causing juvenile CLN3 disease.
Scientific Reports
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PCV13 induced IgG responses in serum associate with serotype-specific IgG in the lung.
The Journal of Infectious Diseases
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Quantitative assessment of structural and functional changes in temporal lobe epilepsy with hippocampal sclerosis.
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(2021)
Enhancing Distraction Osteogenesis With Carbon Fiber Reinforced Polyether Ether Ketone Bone Pins and a Three-Dimensional Printed Transfer Device to Permit Artifact-Free Three-Dimensional Magnetic Resonance Imaging.
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A Case Series on Genotype and Outcome of Liver Transplantation in Children with Niemann-Pick Disease Type C.
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