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Clinical utility of genetic testing in 201 preschool children with inherited eye disorders (vol 22, pg 745, 2020) Lenassi, Eva; Clayton-Smith, Jill; Douzgou, Sofia; Ramsden, Simon C.; Ingram, Stuart; Hall, Georgina; Hardcastle, Claire L.; Fletcher, Tracy A.; Taylor, Rachel L.; Ellingford, Jamie M.; Newman, William D.; Fenerty, Cecilia; Sharma, Vinod; Lloyd, I. Chris; Biswas, Susmito; Ashworth, Jane L.; Black, Graeme C.; Sergouniotis, Panagiotis I. 分享 收藏
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Clinical utility of genetic testing in 201 preschool children with inherited eye disorders Lenassi, Eva; Clayton-Smith, Jill; Douzgou, Sofia; Ramsden, Simon C.; Ingram, Stuart; Hall, Georgina; Hardcastle, Claire L.; Fletcher, Tracy A.; Taylor, Rachel L.; Ellingford, Jamie M.; Newman, William D.; Fenerty, Cecilia; Sharma, Vinod; Lloyd, I. Chris; Biswas, Susmito; Ashworth, Jane L.; Black, Graeme C.; Sergouniotis, Panagiotis I. 分享 收藏
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease 基于面板的遗传检测在综合征性遗传性视网膜疾病中的诊断率 Jiman, Omamah A.; Taylor, Rachel L.; Lenassi, Eva; Smith, Jill Clayton; Douzgou, Sofia; Ellingford, Jamie M.; Barton, Stephanie; Hardcastle, Claire; Fletcher, Tracy; Campbell, Christopher; Ashworth, Jane; Biswas, Susmito; Ramsden, Simon C.; Manson, Forbes D.; Black, Graeme C. 分享 收藏
Clinical and genetic variability in children with partial albinism Campbell, Patrick; Ellingford, Jamie M.; Parry, Neil R. A.; Fletcher, Tracy; Ramsden, Simon C.; Gale, Theodora; Hall, Georgina; Smith, Katherine; Kasperaviciute, Dalia; Thomas, Ellen; Lloyd, I. Chris; Douzgou, Sofia; Clayton-Smith, Jill; Biswas, Susmito; Ashworth, Jane L.; Black, Graeme C. M.; Sergouniotis, Panagiotis I. 分享 收藏
British Association of Dermatologists' guidelines for the management of Stevens-Johnson syndrome/toxic epidermal necrolysis in children and young people, 2018 McPherson, T.; Exton, L. S.; Biswas, S.; Creamer, D.; Dziewulski, P.; Newell, L.; Tabor, K. L.; Wali, G. N.; Walker, G.; Walker, R.; Walker, S.; Young, A. E.; Mustapa, M. F. Mohd; Murphy, R. 分享 收藏
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Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease Taylor, Rachel L.; Parry, Neil R. A.; Barton, Stephanie J.; Campbell, Christopher; Delaney, Claire M.; Ellingford, Jamie M.; Hall, Georgina; Hardcastle, Claire; Morarji, Jiten; Nichol, Elisabeth J.; Williams, Lindsi C.; Douzgou, Sofia; Clayton-Smith, Jill; Ramsden, Simon C.; Sharma, Vinod; Biswas, Susmito; Lloyd, I. Chris; Ashworth, Jane L.; Black, Graeme C.; Sergouniotis, Panagiotis I. 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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Abrogation of HMX1 Function Causes Rare Oculoauricular Syndrome Associated With Congenital Cataract, Anterior Segment Dysgenesis, and Retinal Dystrophy Gillespie, Rachel L.; Urquhart, Jill; Lovell, Simon C.; Biswas, Susmito; Parry, Neil R. A.; Schorderet, Daniel F.; Lloyd, I. Chris; Clayton-Smith, Jill; Black, Graeme C. 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
In Vivo Imaging of Cortical Vitreous Using 1050-nm Swept-Source Deep Range Imaging Optical Coherence Tomography Stanga, Paulo E.; Sala-Puigdollers, Anna; Caputo, Silvestro; Jaberansari, Hojr; Cien, Monica; Gray, Jane; D'Souza, Yvonne; Charles, Stephen J.; Biswas, Susmito; Henson, David B.; McLeod, David 分享 收藏
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