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Failure of Allogeneic Transplant to Correct Sialidosis Despite Early Diagnosis and Full Donor Engraftment of Non-Carrier Leucocytes Jeffreys, Nathan; Khan, Raheej Shamim; Kinsella, Jane; Wynn, Robert; Jones, Simon; Ghosh, Arunabha; Church, Heather; Tylee, Karen; Sharma, Vinod; Ashworth, Jane 分享 收藏
Incidence, sociodemographic and presenting clinical features of childhood non-infectious uveitis: findings from the UK national inception cohort study Solebo, Ameenat Lola; Kellett, Salomey; Mcloone, Eibhlin; Petrushkin, Harry; Gonzalez-Martin, Jose; Ashworth, Jane; Choi, Jessy; Pilling, Rachel F.; Armon, Kate; Warrier, Kishore; Sharma, Srilakshmi M.; Rahi, Jugnoo S.; UNICORNS Uveitis in Childhood National Cohort Study Grp 分享 收藏
Update on the systemic management of noninfectious uveitis in children and adolescents Leal, Ines; Steeples, Laura R.; Wong, Shiao Wei; Giuffre, Chiara; Pockar, Sasa; Sharma, Vinod; Green, Elspeth K. Y.; Payne, Janine; Jones, Nicholas P.; Chieng, Alice Sieu Eng; Ashworth, Jane 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
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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MPS VII - extending the classical phenotype Oldham, Andrew; Oxbarrow, Neil J.; Wolfson, Peter; Jenkins, Petra; Gadepalli, Chaitanya; Ashworth, Jane; Saxena, Ankur; Rothera, Michael; Hendriksz, Christian J.; Tol, Govind; Jovanovic, Ana 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
Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability Clayton-Smith, Jill; Bromley, Rebecca; Dean, John; Journel, Hubert; Odent, Sylvie; Wood, Amanda; Williams, Janet; Cuthbert, Verna; Hackett, Latha; Aslam, Neelo; Malm, Heli; James, Gregory; Westbom, Lena; Day, Ruth; Ladusans, Edmund; Jackson, Adam; Bruce, Iain; Walker, Robert; Sidhu, Sangeet; Dyer, Catrina; Ashworth, Jane; Hindley, Daniel; Diaz, Gemma Arca; Rawson, Myfanwy; Turnpenny, Peter 分享 收藏
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Areas of agreement in the management of childhood non-infectious chronic anterior uveitis in the UK Solebo, Ameenat Lola; Rahi, Jugnoo S.; Dick, Andrew D.; Ramanan, Athimalaipet V.; Ashworth, Jane; Edelsten, Clive; McLoone, Eibhlin; Choi, Jessy; Clarke, Michael P.; Denniston, Alastair K.; Petrushkin, Harry; Watts, Patrick; Mahmood, Usman; Muthusamy, Brinda; Abbott, Joe; Pradeep, Archana; Lambley, Rosemary; Tambe, Katya; Hughes, Ed; Lee, Richard W. J.; Ritchie, Ailsa E.; Steeples, Laura; Jones, Nicholas; Guly, Catherine; Thomas, Dhanes; Sharma, Srilakshmi M.; Stanford, Miles; Damato, Erika; Graham, Elizabeth 分享 收藏
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The effect of haemopoietic stem cell transplantation on the ocular phenotype in mucopolysaccharidosis type I (Hurler) 造血干细胞移植对I型粘多糖贮积症 (Hurler) 眼部表型的影响 Javed, Ahmed; Aslam, Tariq; Jones, Simon A.; Mercer, Jean; Tyler, Karen; Church, Heather; Ghosh, Arunabha; Wynn, Robert; Sornalingam, Krishanthy; Ashworth, Jane 分享 收藏
Human case Sergouniotis, P.; Ellingford, J.; Hall, G.; Ramsden, S.; Biswas, S.; Ashworth, J.; Black, G. 分享 收藏
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