未登录Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly
Drissi, Ichrak; Fletcher, Emily; Shaheen, Ranad; Nahorski, Michael; Alhashem, Amal M.; Lisgo, Steve; Fernandez-Jaen, Alberto; Schon, Katherine; Tlili-Graiess, Kalthoum; Smithson, Sarah F.; Lindsay, Susan; Sharpe, Hayley J.; Alkuraya, Fowzan S.; Woods, Geoff .png)
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收藏An integrated transcriptional analysis of the developing human retina发育中的人类视网膜的整合转录分析Mellough, Carla B.; Bauer, Roman; Collin, Joseph; Dorgau, Birthe; Zerti, Darin; Dolan, David W. P.; Jones, Carl M.; Izuogu, Osagie G.; Yu, Min; Hallam, Dean; Steyn, Jannetta S.; Whites, Kathryn; Steel, David H.; Santibanez-Koref, Mauro; Elliott, David J.; Jackson, Michael S.; Lindsay, Susan; Grellscheid, Sushma; Lako, Majlinda 分享 收藏 Disrupted alternative splicing for genes implicated in splicing and ciliogenesis causes PRPF31 retinitis pigmentosaBuskin, Adriana; Zhu, Lili; Chichagova, Valeria; Basu, Basudha; Mozaffari-Jovin, Sina; Dolan, David; Droop, Alastair; Collin, Joseph; Bronstein, Revital; Mehrotra, Sudeep; Farkas, Michael; Hilgen, Gerrit; White, Kathryn; Pan, Kuan-Ting; Treumann, Achim; Hallam, Dean; Bialas, Katarzyna; Chung, Git; Mellough, Carla; Ding, Yuchun; Krasnogor, Natalio; Przyborski, Stefan; Zwolinski, Simon; Al-Aama, Jumana; Alharthi, Sameer; Xu, Yaobo; Wheway, Gabrielle; Szymanska, Katarzyna; McKibbin, Martin; Inglehearn, Chris F.; Elliott, David J.; Lindsay, Susan; Ali, Robin R.; Steel, David H.; Armstrong, Lyle; Sernagor, Evelyne; Urlaub, Henning; Pierce, Eric; Luehrmann, Reinhard; Grellscheid, Sushma-Nagaraja; Johnson, Colin A.; Lako, Majlinda 分享 收藏 Extracellular matrix component expression in human pluripotent stem cell-derived retinal organoids recapitulates retinogenesis in vivo and reveals an important role for IMPG1 and CD44 in the development of photoreceptors and interphotoreceptor matrix人多能干细胞来源的视网膜类器官中细胞外基质成分的表达重演了体内的视网膜生成，并揭示了IMPG1和CD44在感光细胞和感光细胞间基质发育中的重要作用Felemban, Majed; Dorgau, Birthe; Hunt, Nicola Claire; Hallam, Dean; Zerti, Darin; Bauer, Roman; Ding, Yuchun; Collin, Joseph; Steel, David; Krasnogor, Natalio; Al-Aama, Jumana; Lindsay, Susan; Mellough, Carla; Lako, Majlinda 分享 收藏 Laminin γ3 plays an important role in retinal lamination, photoreceptor organisation and ganglion cell differentiation层粘连蛋白 γ3在视网膜分层，光感受器组织和神经节细胞分化中起重要作用Dorgau, Birthe; Felemban, Majed; Sharpe, Alexander; Bauer, Roman; Hallam, Dean; Steel, David H.; Lindsay, Susan; Mellough, Carla; Lako, Majlinda 分享 收藏 分享 收藏 分享 收藏 The embryological basis of subclinical hypertrophic cardiomyopathyCaptur, Gabriella; Ho, Carolyn Y.; Schlossarek, Saskia; Kerwin, Janet; Mirabel, Mariana; Wilson, Robert; Rosmini, Stefania; Obianyo, Chinwe; Reant, Patricia; Bassett, Paul; Cook, Andrew C.; Lindsay, Susan; McKenna, William J.; Mills, Kevin; Elliott, Perry M.; Mohun, Timothy J.; Carrier, Lucie; Moon, James C. 分享 收藏 分享 收藏 Abnormal retinal development associated with FRMD7 mutationsThomas, Mervyn G.; Crosier, Moira; Lindsay, Susan; Kumar, Anil; Araki, Masasuke; Leroy, Bart P.; McLean, Rebecca J.; Sheth, Viral; Maconachie, Gail; Thomas, Shery; Moore, Anthony T.; Gottlob, Irene 分享 收藏 The Tissue-Specific RNA Binding Protein T-STAR Controls Regional Splicing Patterns of Neurexin Pre-mRNAs in the BrainEhrmann, Ingrid; Dalgliesh, Caroline; Liu, Yilei; Danilenko, Marina; Crosier, Moira; Overman, Lynn; Arthur, Helen M.; Lindsay, Susan; Clowry, Gavin J.; Venables, Julian P.; Fort, Philippe; Elliott, David J. 分享 收藏 The Essential Role of Centrosomal NDE1 in Human Cerebral Cortex NeurogenesisBakircioglu, Mehmet; Carvalho, Ofelia P.; Khurshid, Maryam; Cox, James J.; Tuysuz, Beyhan; Barak, Tanyeri; Yilmaz, Saliha; Caglayan, Okay; Dincer, Alp; Nicholas, Adeline K.; Quarrell, Oliver; Springell, Kelly; Karbani, Gulshan; Malik, Saghira; Gannon, Caroline; Sheridan, Eamonn; Crosier, Moira; Lisgo, Steve N.; Lindsay, Susan; Bilguvar, Kaya; Gergely, Fanni; Gunel, Murat; Woods, C. Geoffrey 分享 收藏 The clinical and molecular genetic features of idiopathic infantile periodic alternating nystagmusThomas, Mervyn G.; Crosier, Moira; Lindsay, Susan; Kumar, Anil; Thomas, Shery; Araki, Masasuke; Talbot, Chris J.; McLean, Rebecca J.; Surendran, Mylvaganam; Taylor, Katie; Leroy, Bart P.; Moore, Anthony T.; Hunter, David G.; Hertle, Richard W.; Tarpey, Patrick; Langmann, Andrea; Lindner, Susanne; Brandner, Martina; Gottlob, Irene 分享 收藏 分享 收藏 WDR62 is associated with the spindle pole and is mutated in human microcephalyNicholas, Adeline K.; Khurshid, Maryam; Desir, Julie; Carvalho, Ofelia P.; Cox, James J.; Thornton, Gemma; Kausar, Rizwana; Ansar, Muhammad; Ahmad, Wasim; Verloes, Alain; Passemard, Sandrine; Misson, Jean-Paul; Lindsay, Susan; Gergely, Fanni; Dobyns, William B.; Roberts, Emma; Abramowicz, Marc; Woods, C. Geoffrey 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 Truncation of NHEJ1 in a patient with polymicrogyriaCantagrel, Vincent; Lossi, Anne-Marie; Lisgo, Steven; Missirian, Chantal; Borges, Ana; Philip, Nicole; Fernandez, Carla; Cardoso, Carlos; Figarella-Branger, Dominique; Moncla, Anne; Lindsay, Susan; Dobyns, William B.; Villard, Laurent 分享 收藏 
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