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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
SRPK3 Is Essential for Cognitive and Ocular Development in Humans and Zebrafish, Explaining X-Linked Intellectual Disability Roychaudhury, Arkaprava; Lee, Yu-Ri; Choi, Tae-Ik; Thomas, Mervyn G.; Khan, Tahir N.; Yousaf, Hammad; Skinner, Cindy; Maconachie, Gail; Crosier, Moira; Horak, Holli; Constantinescu, Cris S.; Kim, Tae-Yoon; Lee, Kang-Han; Kyung, Jae-Jun; Wang, Tao; Ku, Bonsu; Chodirker, Bernard N.; Hammer, Michael F.; Gottlob, Irene; Norton, William H. J.; Gerlai, Robert; Kim, Hyung-Goo; Graziano, Claudio; Pippucci, Tommaso; Iovino, Emanuela; Montanari, Francesca; Severi, Giulia; Toro, Camilo; Boerkoel, Cornelius F.; Cha, Hyo Sun; Choi, Cheol Yong; Kim, Sungjin; Yoon, Je-Hyun; Gilmore, Kelly; Vora, Neeta L.; Davis, Erica E.; Chudley, Albert E.; Schwartz, Charles E.; Kim, Cheol-Hee 分享 收藏
Extended optical treatment versus early patching with an intensive patching regimen in children with amblyopia in (EuPatch): a multicentre, randomised controlled trial Proudlock, Frank A.; Hisaund, Michael; Maconachie, Gail; Papageorgiou, Eleni; Manouchehrinia, Ali; Dahlmann-Noor, Annegret; Khandelwal, Payal; Self, Jay; Beisse, Christina; Gottlob, Irene 分享 收藏
Retinal Development in Infants and Young Children With Albinism: Evidence for Plasticity in Early Childhood Lee, Helena; Purohit, Ravi; Sheth, Viral; Maconachie, Gail; Tu, Zhanhan; Thomas, Mervyn G.; Pilat, Anastasia; Mclean, Rebecca J.; Proudlock, Frank A.; Gottlob, Irene 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
Recurrent Rare Copy Number Variants Increase Risk for Esotropia 复发性罕见拷贝数变异增加内斜视的风险 Whitman, Mary C.; Di Gioia, Silvio Alessandro; Chan, Wai-Man; Gelber, Alon; Pratt, Brandon M.; Bell, Jessica L.; Collins, Thomas E.; Knowles, James A.; Armoskus, Christopher; Pato, Michele; Pato, Carlos; Shaaban, Sherin; Staffieri, Sandra; MacKinnon, Sarah; Maconachie, Gail D. E.; Elder, James E.; Traboulsi, Elias I.; Gottlob, Irene; Mackey, David A.; Hunter, David G.; Engle, Elizabeth C. 分享 收藏
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
Homozygous stop mutation in AHR causes autosomal recessive foveal hypoplasia and infantile nystagmus Mayer, Anja K.; Mahajnah, Muhammad; Thomas, Mervyn G.; Cohen, Yuval; Habib, Adib; Schulze, Martin; Maconachie, Gail D. E.; AlMoallem, Basamat; De Baere, Elfride; Lorenz, Birgit; Traboulsi, Elias, I; Kohl, Susanne; Azem, Abdussalam; Bauer, Peter; Gottlob, Irene; Sharkia, Rajech; Wissinger, Bernd 分享 收藏
Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect Shaaban, Sherin; MacKinnon, Sarah; Andrews, Caroline; Staffieri, Sandra E.; Maconachie, Gail D. E.; Chan, Wai-Man; Whitman, Mary C.; Morton, Sarah U.; Yazar, Seyhan; MacGregor, Stuart; Elder, James E.; Traboulsi, Elias I.; Gottlob, Irene; Hewitt, Alex W.; Hunter, David G.; Mackey, David A.; Engle, Elizabeth C. 分享 收藏
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