Kết quả tìm kiếm - Huajin Li
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1
Mutations in human IFT140 cause non-syndromic retinal degeneration Bằng Mingchu Xu, Lizhu Yang, Feng Wang, Huajin Li, Xia Wang, Weichen Wang, Zhongqi Ge, Keqing Wang, Li Zhao, Hui Li, Yumei Li, Ruifang Sui, Rui Chen
Được phát hành 2015Artigo -
2
<i>CEP78</i>is mutated in a distinct type of Usher syndrome Bằng Qing Fu, Mingchu Xu, Chen Xue, Xunlun Sheng, Zhisheng Yuan, Yani Liu, Huajin Li, Zixi Sun, Huiping Li, Lizhu Yang, Keqing Wang, Fangxia Zhang, Yumei Li, Chen Zhao, Ruifang Sui, Rui Chen
Được phát hành 2016Artigo -
3
Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype–phenotype correlations and unexpected diagnostic revisions Bằng Jacques Zaneveld, Sorath Noorani Siddiqui, Huajin Li, Xia Wang, Hui Wang, Keqing Wang, Hui Li, Huanan Ren, Irma López, Allison Dorfman, Ayesha Khan, Feng Wang, Jason S. Salvo, Violet Gelowani, Yumei Li, Ruifang Sui, Robert K. Koenekoop, Rui Chen
Được phát hành 2014Artigo -
4
Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies Bằng Mingchu Xu, Ya‐Jing Xie, Hana Abouzeid, Christopher T. Gordon, Alessia Fiorentino, Zixi Sun, Anna Lehman, Ihab S. Osman, Rachayata Dharmat, Rosa Riveiro-Álvarez, Linda Bapst-Wicht, Darwin Babino, Gavin Arno, Virginia Busetto, Li Zhao, Hui Li, Miguel Ángel López-Martínez, Liliana F. Azevedo, Laurence Hubert, Nikolas Pontikos, Aiden Eblimit, Isabel Lorda‐Sánchez, Valeria Kheir, Vincent Plagnol, Myriam Oufadem, Zachry T. Soens, Lizhu Yang, Christine Bôle‐Feysot, Rolph Pfundt, Nathalie Allaman-Pillet, Patrick Nitschké, Michael E. Cheetham, Stanislas Lyonnet, Smriti A. Agrawal, Huajin Li, Gaëtan Pinton, Michel Michaelides, Claude Besmond, Yumei Li, Zhisheng Yuan, Johannes von Lintig, Andrew R. Webster, Hervé Le Hir, Peter Stoilov, Jeanne Amiel, Alison J. Hardcastle, Carmen Ayuso, Ruifang Sui, Rui Chen, Rando Allikmets, Daniel F. Schorderet, Graeme Black, Georgina Hall, Rachel Gillespie, Simon Ramsden, Forbes D.C. Manson, Panagiotis I. Sergouniotis, Chris F. Inglehearn, Carmel Toomes, Manir Ali, Martin McKibbin, James A. Poulter, Emma Lord, Andrea H. Németh, Stephanie Halford, Susan M. Downes, Jing Yu
Được phát hành 2017Artigo
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Các môn học liên quan
Biology
Gene
Genetics
Phenotype
Exome
Exome sequencing
Mutation
Retinitis pigmentosa
Disease gene identification
Genetic heterogeneity
Medicine
Retinal degeneration
Sanger sequencing
ABCA4
Allele
Audiology
Bardet–Biedl syndrome
Biochemistry
Candidate gene
Ciliopathy
DNA sequencing
Disease
Environmental health
Frameshift mutation
Genetic testing
Genotype
Hearing loss
Human genetics
Hypotonia
Pathology