受强制性开放获取政策约束的文章 - Jill Clayton-Smith了解详情
无法在其他位置公开访问的文章：18 篇
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Personalized diagnosis and management of congenital cataract by next-generation sequencing
RL Gillespie, J O’Sullivan, J Ashworth, S Bhaskar, S Williams, S Biswas, ...
Ophthalmology 121 (11), 2124-2137. e2, 2014
强制性开放获取政策： National Institute for Health Research, UK
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Cognition in school-age children exposed to levetiracetam, topiramate, or sodium valproate
RL Bromley, R Calderbank, CP Cheyne, C Rooney, P Trayner, ...
Neurology 87 (18), 1943-1953, 2016
强制性开放获取政策： National Institute for Health Research, UK
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Further delineation of Pitt–Hopkins syndrome: phenotypic and genotypic description of 16 novel patients
C Zweier, H Sticht, EK Bijlsma, J Clayton-Smith, SE Boonen, A Fryer, ...
Journal of medical genetics 45 (11), 738-744, 2008
强制性开放获取政策： German Research Foundation
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Deletions in the VPS13B (COH1) gene as a cause of Cohen syndrome
I Balikova, AE Lehesjoki, TJL De Ravel, B Thienpont, KE Chandler, ...
Human mutation 30 (9), E845-E854, 2009
强制性开放获取政策： US National Institutes of Health, Research Foundation (Flanders)
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Panel-based clinical genetic testing in 85 children with inherited retinal disease
RL Taylor, NRA Parry, SJ Barton, C Campbell, CM Delaney, JM Ellingford, ...
Ophthalmology 124 (7), 985-991, 2017
强制性开放获取政策： UK Medical Research Council, National Institute for Health Research, UK
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Folate and clefts of the lip and palate—a UK-based case-control study: Part II: Biochemical and genetic analysis
J Little, M Gilmour, PA Mossey, D Fitzpatrick, A Cardy, J Clayton-Smith, ...
The Cleft palate-craniofacial journal 45 (4), 428-438, 2008
强制性开放获取政策： Chief Scientist Office, Scottish Executive
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The phenotype of Sotos syndrome in adulthood: a review of 44 individuals
A Foster, A Zachariou, C Loveday, T Ashraf, E Blair, J Clayton‐Smith, ...
American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2019
强制性开放获取政策： National Institute for Health Research, UK, Wellcome Trust
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De novo DDX3X missense variants in males appear viable and contribute to syndromic intellectual disability
P Nicola, PR Blackburn, KJ Rasmussen, NL Bertsch, EW Klee, L Hasadsri, ...
American journal of medical genetics Part A 179 (4), 570-578, 2019
强制性开放获取政策： National Health and Medical Research Council, Australia, National Institute …
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Five patients with novel overlapping interstitial deletions in 8q22. 2q22. 3
A Kuechler, K Buysse, J Clayton‐Smith, C Le Caignec, A David, H Engels, ...
American Journal of Medical Genetics Part A 155 (8), 1857-1864, 2011
强制性开放获取政策： Research Foundation (Flanders)
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The TBR1-related autistic-spectrum-disorder phenotype and its clinical spectrum
JH McDermott, DDD Study, J Clayton-Smith, TA Briggs
European journal of medical genetics 61 (5), 253-256, 2018
强制性开放获取政策： National Institute for Health Research, UK
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The MECP2 variant c.925C>T (p.Arg309Trp) causes intellectual disability in both males and females without classic features of Rett syndrome
B Schönewolf‐Greulich, MI Tejada, K Stephens, K Hadzsiev, J Gauthier, ...
Clinical genetics 89 (6), 733-738, 2016
强制性开放获取政策： National Institute for Health Research, UK, Wellcome Trust, Netherlands …
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Observation of Cleft Palate in an Individual with SOX11 Mutation: Indication of a Role for SOX11 in Human Palatogenesis
U Khan, DDD Study, E Baker, J Clayton-Smith
The Cleft Palate-Craniofacial Journal 55 (3), 456-461, 2018
强制性开放获取政策： National Institute for Health Research, UK, Wellcome Trust
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Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities
DO Robinson, F Lin, M Lyon, M Raponi, E Cross, HE White, H Cox, ...
Clinical genetics 82 (3), 223-231, 2012
强制性开放获取政策： Cancer Research UK
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Traboulsi syndrome due to ASPH mutation: An under-recognised cause of ectopia lentis
N Kulkarni, IC Lloyd, J Ashworth, S Biswas, GCM Black, J Clayton-Smith
Clinical dysmorphology 28 (4), 184-189, 2019
强制性开放获取政策： National Institute for Health Research, UK
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Sibling recurrence of total anomalous pulmonary venous drainage
JH McDermott, DDD Study, J Clayton-Smith
European Journal of Medical Genetics 60 (5), 265-267, 2017
强制性开放获取政策： National Institute for Health Research, UK, Wellcome Trust
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Confirmation that mutations in DDX59 cause an autosomal recessive form of oral-facial-digital syndrome: Further delineation of the DDX59 phenotype in two new families
S Faily, R Perveen, J Urquhart, K Chandler, J Clayton-Smith
European journal of medical genetics 60 (10), 527-532, 2017
强制性开放获取政策： US National Institutes of Health
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The value of microarray-based comparative genomic hybridisation (aCGH) testing in the paediatric clinic
TA Briggs, J Harris, J Innes, A Will, PD Arkwright, J Clayton-Smith
Archives of Disease in Childhood 100 (8), 728-731, 2015
强制性开放获取政策： National Institute for Health Research, UK
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Cerebral screening in patients with hereditary haemorrhagic telangiectasia.
A Jackson, TA Briggs, J Clayton‐Smith
Internal Medicine Journal 44 (10), 2014
强制性开放获取政策： National Institute for Health Research, UK
可在其他位置公开访问的文章：154 篇
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Tocilizumab in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial
RECOVERY Collaborative Group
Lancet (London, England) 397 (10285), 1637, 2021
强制性开放获取政策： Bill & Melinda Gates Foundation, US National Institutes of Health, British …
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Cognitive function at 3 years of age after fetal exposure to antiepileptic drugs
KJ Meador, GA Baker, N Browning, J Clayton-Smith, DT Combs-Cantrell, ...
New England journal of medicine 360 (16), 1597-1605, 2009
强制性开放获取政策： US National Institutes of Health
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