未登录 The Phenotypic and Genotypic Features of ADAMTSL4-Related Ocular Disease ADAMTSL4相关眼病的表型和基因型特征 Williams, Katie M.; Berger, Wolfgang; Koller, Samuel; Pfiffner, Fatma Kivrak; Maspoli, Alessandro; Gloggnitzer, Jiradet; Bruhwiler, Britta V. T.; Stathopoulos, Christina; Munier, Francis; Allen, Louise; Iosifidis, Christos; Black, Graeme C.; Sergouniotis, Panagiotis I.; Lloyd, Ian Christopher; Gerth-kahlert, Christina 分享 收藏
Bi-allelic mutation of CTNNB1 causes a severe form of syndromic microphthalmia, persistent foetal vasculature and vitreoretinal dysplasia Taylor, Rachel L.; Soriano, Carla Sanjuro; Williams, Simon; Dzulova, Denisa; Ashworth, Jane; Hall, Georgina; Gale, Theodora; Lloyd, I. Christopher; Inglehearn, Chris F.; Toomes, Carmel; Douzgou, Sofia; Black, Graeme C. 分享 收藏
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Molecular findings from 537 individuals with inherited retinal disease 来自537名遗传性视网膜疾病患者的分子发现 Ellingford, Jamie M.; Barton, Stephanie; Bhaskar, Sanjeev; O'Sullivan, James; Williams, Simon G.; Lamb, Janine A.; Panda, Binay; Sergouniotis, Panagiotis I.; Gillespie, Rachel L.; Daiger, Stephen P.; Hall, Georgina; Gale, Theodora; Lloyd, I. Christopher; Bishop, Paul N.; Ramsden, Simon C.; Black, Graeme C. M. 分享 收藏
Next-generation Sequencing in the Diagnosis of Metabolic Disease Marked by Pediatric Cataract Gillespie, Rachel L.; Urquhart, Jill; Anderson, Beverley; Williams, Simon; Waller, Sarah; Ashworth, Jane; Biswas, Susmito; Jones, Simon; Stewart, Fiona; Lloyd, I. Christopher; Clayton-Smith, Jill; Black, Graeme C. M. 分享 收藏
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Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization Greenlees, Rebecca; Mihelec, Marija; Yousoof, Saira; Speidel, Daniel; Wu, Selwin K.; Rinkwitz, Silke; Prokudin, Ivan; Perveen, Rahat; Cheng, Anson; Ma, Alan; Nash, Benjamin; Gillespie, Rachel; Loebel, David A. F.; Clayton-Smith, Jill; Lloyd, I. Christopher; Grigg, John R.; Tam, Patrick P. L.; Yap, Alpha S.; Becker, Thomas S.; Black, Graeme C. M.; Semina, Elena; Jamieson, Robyn V. 分享 收藏
Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome Ellingford, Jamie M.; Sergouniotis, Panagiotis I.; Lennon, Rachel; Bhaskar, Sanjeev; Williams, Simon G.; Hillman, Kate A.; O'Sullivan, James; Hall, Georgina; Ramsden, Simon C.; Lloyd, I. Christopher; Woolf, Adrian S.; Black, Graeme C. M. 分享 收藏
Personalized Diagnosis and Management of Congenital Cataract by Next-Generation Sequencing Gillespie, Rachel L.; O'Sullivan, James; Ashworth, Jane; Bhaskar, Sanjeev; Williams, Simon; Biswas, Susmito; Kehdi, Elias; Ramsden, Simon C.; Clayton-Smith, Jill; Black, Graeme C.; Lloyd, I. Christopher 分享 收藏
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Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation Jamieson, Robyn V.; Farrar, Nicola; Stewart, Katrina; Perveen, Rahat; Mihelec, Marija; Carette, Martin; Grigg, John R.; McAvoy, John W.; Lovicu, Frank J.; Tam, Patrick P. L.; Scambler, Peter; Lloyd, I. Christopher; Donnai, Dian; Black, Graeme C. M. 分享 收藏
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Optic nerve size evaluated by magnetic resonance imaging in children with optic nerve hypoplasia, multiple pituitary hormone deficiency, isolated growth hormone deficiency, and idiopathic short stature Birkebæk, NH; Patel, L; Wright, NB; Grigg, JR; Sinha, S; Hall, CM; Price, DA; Lloyd, IC; Clayton, PE 分享 收藏