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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 8 (of 8 Records)

Query Trace: Counseling and WFS1[original query]
[Heterogeneous mutations of Wolfram syndrome I gene responsible for low frequency nonsyndromic hearing loss].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2006 1 40 (10): 764-8.
Liu Yu-he, Ke Xiao-mei, Xiao Shui-fa
Genotypic classification of patients with Wolfram syndrome: insights into the natural history of the disease and correlation with phenotype.
Genetics in medicine : official journal of the American College of Medical Genetics 2013 Jul 15 (7): 497-506.
de Heredia Miguel López, Clèries Ramón, Nunes Virgin
Diagnostic genetic testing for patients with bilateral optic neuropathy and comparison of clinical features according to OPA1 mutation status.
Molecular vision 2017 8 23 548-560.
Gaier Eric D, Boudreault Katherine, Nakata Isao, Janessian Maria, Skidd Philip, DelBono Elizabeth, Allen Keri F, Pasquale Louis R, Place Emily, Cestari Dean M, Stacy Rebecca C, Rizzo Joseph F, Wiggs Janey
Whole exome sequencing identifies a pathogenic mutation in WFS1 in two large Chinese families with autosomal dominant all-frequency hearing loss and prenatal counseling.
International journal of pediatric otorhinolaryngology 2018 Mar 106 113-119.
Cheng Hongbo, Zhang Qin, Wang Wenbin, Meng Qingxia, Wang Fuxin, Liu Minjuan, Mao Jun, Shi Yichao, Wang Wei, Li Ho
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
European journal of human genetics : EJHG 2021 Nov .
Adeyemo Adebolajo, Faridi Rabia, Chattaraj Parna, Yousaf Rizwan, Tona Risa, Okorie Samuel, Bharadwaj Thashi, Nouel-Saied Liz M, Acharya Anushree, Schrauwen Isabelle, Morell Robert J, Leal Suzanne M, Friedman Thomas B, Griffith Andrew J, Roux Isabel
Identification of novel variants in Turkish families with non-syndromic congenital cataracts using whole-exome sequencing.
International ophthalmology 2023 8 .
Ayberk Türky?lmaz, Ay?in Tuba Kaplan, Sibel Öskan Yalç?n, Safiye Güne? Sa?er, ?aban ?im?
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Investigative ophthalmology & visual science 2023 2 64 (2): 5.
Li Wei, He Xiang-Dong, Yang Zheng-Tao, Han Dong-Ming, Sun Yan, Chen Yan-Xian, Han Xiao-Tong, Guo Si-Cheng, Ma Yu-Ting, Jin Xin, Yang Huan-Ming, Gao Ya, Wang Zhuo-Shi, Li Jian-Kang, He W
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Brain : a journal of neurology 2024 10 .
Yuxi Zheng, Panfeng Wang, Shiqiang Li, Yuxi Long, Yi Jiang, Dongwei Guo, Xiaoyun Jia, Mengchu Liu, Yiyan Zeng, Xueshan Xiao, J Fielding Hejtmancik, Qingjiong Zhang, Wenmin S
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