受强制性开放获取政策约束的文章 - Black G, Black GC, Black GCM了解详情
无法在其他位置公开访问的文章：12 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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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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Genetic testing for inherited ocular disease: delivering on the promise at last?
RL Gillespie, G Hall, GC Black
Clinical & Experimental Ophthalmology 42 (1), 65-77, 2014
强制性开放获取政策： US National Institutes of Health
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Understanding the expectations of patients with inherited retinal dystrophies
R Combs, G Hall, K Payne, J Lowndes, S Devery, SM Downes, AT Moore, ...
British Journal of Ophthalmology 97 (8), 1057-1061, 2013
强制性开放获取政策： UK Medical Research Council
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Valuing the benefits of genetic testing for retinitis pigmentosa: a pilot application of the contingent valuation method
M Eden, K Payne, RM Combs, G Hall, M McAllister, GCM Black
British Journal of Ophthalmology 97 (8), 1051-1056, 2013
强制性开放获取政策： UK Medical Research Council
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Next‐generation sequencing targeted disease panel in rod‐cone retinal dystrophies in Māori and Polynesian reveals novel changes and a common founder mutation
AL Vincent, N Abeysekera, KA van Bysterveldt, VF Oliver, JM Ellingford, ...
Clinical & Experimental Ophthalmology 45 (9), 901-910, 2017
强制性开放获取政策： UK Biotechnology and Biological Sciences Research Council
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Pathogenic variants in IMPG1 cause autosomal dominant and autosomal recessive retinitis pigmentosa
G Olivier, M Corton, D Intartaglia, SK Verbakel, PI Sergouniotis, ...
Journal of Medical Genetics 58 (8), 570-578, 2021
强制性开放获取政策： Fondazione Telethon, Italy, National Institute for Health Research, UK …
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Laser prophylaxis in stickler syndrome: the Manchester protocol
E Linton, A Jalil, P Sergouniotis, G Moussa, G Black, S Charles, T Ivanova
Retina 43 (1), 88-93, 2023
强制性开放获取政策： National Institute for Health 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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Hearing loss in enlarged vestibular aqueduct: a prognostic factor systematic review of the literature
HS Saeed, J Kenth, G Black, SR Saeed, S Stivaros, IA Bruce
Otology & Neurotology 42 (1), 99-107, 2021
强制性开放获取政策： UK Medical Research Council, National Institute for Health Research, UK
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An unusual retinal phenotype associated with a mutation in sterol carrier protein SCP2
J Morarji, R Gillespie, PI Sergouniotis, R Horvath, GCM Black
JAMA ophthalmology 135 (2), 167-169, 2017
强制性开放获取政策： UK Medical Research Council
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High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency
JM Ellingford, N Telford, J Urquhart, AM Will, D Bonney, B Adams, ...
Cancer Genetics 256, 77-80, 2021
强制性开放获取政策： Blood Cancer UK, Cancer Research UK
可在其他位置公开访问的文章：166 篇
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Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies
Y Liu, S Chen, L Zühlke, GC Black, M Choy, N Li, BD Keavney
International journal of epidemiology 48 (2), 455-463, 2019
强制性开放获取政策： British Heart Foundation, UK Economic and Social Research Council, UK …
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The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ...
Nucleic acids research 42 (D1), D966-D974, 2014
强制性开放获取政策： US National Institutes of Health, German Research Foundation, British Heart …
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Retinal gene therapy in patients with choroideremia: initial findings from a phase 1/2 clinical trial
RE MacLaren, M Groppe, AR Barnard, CL Cottriall, T Tolmachova, ...
The Lancet 383 (9923), 1129-1137, 2014
强制性开放获取政策： Cancer Research UK, Wellcome Trust
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Whole-genome sequencing of patients with rare diseases in a national health system
E Turro, WJ Astle, K Megy, S Gräf, D Greene, O Shamardina, HL Allen, ...
Nature 583 (7814), 96-102, 2020
强制性开放获取政策： European Molecular Biology Laboratory, British Heart Foundation, Cancer …
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Azithromycin in patients admitted to hospital with COVID-19 (RECOVERY): a randomised, controlled, open-label, platform trial
RECOVERY Collaborative Group
Lancet (London, England) 397 (10274), 605, 2021
强制性开放获取政策： Bill & Melinda Gates Foundation, British Heart Foundation, Cancer Research …
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Biallelic mutation of BEST1 causes a distinct retinopathy in humans
R Burgess, ID Millar, BP Leroy, JE Urquhart, IM Fearon, E De Baere, ...
The American Journal of Human Genetics 82 (1), 19-31, 2008
强制性开放获取政策： Research Foundation (Flanders), British Heart Foundation
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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus
BH Anderson, PR Kasher, J Mayer, M Szynkiewicz, EM Jenkinson, ...
Nature genetics 44 (3), 338-342, 2012
强制性开放获取政策： US National Institutes of Health, Forskningsrådet för arbetsliv, hälsa och …
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Initial results from a first-in-human gene therapy trial on X-linked retinitis pigmentosa caused by mutations in RPGR
J Cehajic-Kapetanovic, K Xue, C Martinez-Fernandez de la Camara, ...
Nature medicine 26 (3), 354-359, 2020
强制性开放获取政策： UK Medical Research Council, National Institute for Health Research, UK
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