未登录 Foveal Hypoplasia Grading with Optical Coherence Tomography: Agreement and Challenges Across Experience Levels Shenoy, Riddhi; Maconachie, Gail D. E.; Parida, Swati; Tu, Zhanhan; Aamir, Abdullah; Chean, Chung S.; Roked, Ayesha; Taylor, Michael; Garratt, George; Rufai, Sohaib; Dawar, Basu; Isherwood, Steven; Ramoutar, Ryan; Stubbing-Moore, Alex; Prakash, Esha; Lakhani, Kishan; Maltyn, Ethan; Kwan, Jennifer; Desilva, Ian; Kuht, Helen J.; Gottlob, Irene; Thomas, Mervyn G. 分享 收藏
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Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease 遗传性非酒精性脂肪肝病的罕见MTTP变异的鉴定和表征 Grove, Jane I.; Lo, Peggy C. K.; Shrine, Nick; Barwell, Julian; V. Wain, Louise; Tobin, Martin D.; Salter, Andrew M.; Borkar, Aditi N.; Cuevas-Ocana, Sara; Bennett, Neil; John, Catherine; Ntalla, Ioanna; Jones, Gabriela E.; Neal, Christopher P.; Thomas, Mervyn G.; Kuht, Helen; Gupta, Pankaj; Vemala, Vishwaraj M.; Grant, Allister; Adewoye, Adeolu B.; Shenoy, Kotacherry T.; Balakumaran, Leena K.; Hollox, Edward J.; Hannan, Nicholas R. F.; Aithal, Guruprasad P. 分享 收藏
Genotypic and Phenotypic Spectrum of Foveal Hypoplasia A Multicenter Study Kuht, Helen J.; Maconachie, Gail D. E.; Han, Jinu; Kessel, Line; van Genderen, Maria M.; McLean, Rebecca J.; Hisaund, Michael; Tu, Zhanhan; Hertle, Richard W.; Gronskov, Karen; Bai, Dayong; Wei, Aihua; Li, Wei; Jiao, Yonghong; Smirnov, Vasily; Choi, Jae-Hwan; Tobin, Martin D.; Sheth, Viral; Purohit, Ravi; Dawar, Basu; Girach, Ayesha; Strul, Sasha; May, Laura; Chen, Fred K.; Jeffery, Rachael C. Heath; Aamir, Abdullah; Sano, Ronaldo; Jin, Jing; Brooks, Brian P.; Kohl, Susanne; Arveiler, Benoit; Montoliu, Lluis; Engle, Elizabeth C.; Proudlock, Frank A.; Nishad, Garima; Pani, Prateek; Varma, Girish; Gottlob, Irene; Thomas, Mervyn G. 分享 收藏
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Discordant phenotypes in twins with infantile nystagmus Aamir, Abdullah; Kuht, Helen J.; McLean, Rebecca J.; Maconachie, Gail D. E.; Sheth, Viral; Dawar, Basu; Purohit, Ravi; Sylvius, Nicolas; Hisaund, Michael; Zubcov-Iwantscheff, Alina; Proudlock, Frank A.; Gottlob, Irene; Thomas, Mervyn G. 分享 收藏
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SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization Kuht, Helen J.; Han, Jinu; Maconachie, Gail D. E.; Park, Sung Eun; Lee, Seung-Tae; McLean, Rebecca; Sheth, Viral; Hisaund, Michael; Dawar, Basu; Sylvius, Nicolas; Mahmood, Usman; Proudlock, Frank A.; Gottlob, Irene; Lim, Hyun Taek; Thomas, Mervyn G. 分享 收藏
Congenital monocular elevation deficiency associated with a novel TUBB3 gene variant Thomas, Mervyn G.; Maconachie, Gail D. E.; Constantinescu, Cris S.; Chan, Wai-Man; Barry, Brenda; Hisaund, Michael; Sheth, Viral; Kuht, Helen J.; Dineen, Rob A.; Harieaswar, Sreemathi; Engle, Elizabeth C.; Gottlob, Irene 分享 收藏
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