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Scientific Reports|March 19, 2015
Whole-exome sequencing identifies OR2W3 mutation as a cause of autosomal dominant retinitis pigmentosaXiangyu Ma, Liping Guan, Wei Wu, et al.American Journal of Human Genetics|March 13, 2012
Exome sequencing reveals mutations in TRPV3 as a cause of Olmsted syndromeZhimiao Lin, Quan Chen, Mingyang Lee, et al.Cell Genomics|October 10, 2024
A genome-wide association study of neonatal metabolitesQuanze He, Hankui Liu, Lu Lu, et al.Human Genetics|March 8, 2024
Clinical and genetic architecture of a large cohort with auditory neuropathyHongyang Wang, Liping Guan, Xiaonan Wu, et al.Orphanet Journal of Rare Diseases|December 11, 2014
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathyBerta Almoguera, Sijie He, Marta Corton, et al.Plos One|July 22, 2015
Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons LearnedBerta Almoguera, Jiankang Li, Patricia Fernandez-San Jose, et al.Journal of Human Genetics|January 16, 2015
Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese familyHonghan Wang, Xinwei Wang, Chufeng He, et al.Plos One|August 13, 2013
Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing lossYali Zhao, Feifan Zhao, Liang Zong, et al.European Journal of Epidemiology|November 15, 2024
A prospective multicenter birth cohort in China: pregnancy health atlasSi Zhou, Niya Zhou, Hanbo Zhang, et al.Frontiers in Medicine|May 2, 2024
Non-invasive prediction of preeclampsia using the maternal plasma cell-free DNA profile and clinical risk factorsYan Yu, Wenqiu Xu, Sufen Zhang, et al.Pageof 10