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Molecular Genetics & Genomic Medicine|March 14, 2020
Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg SyndromeYongbo Yu, Wei Liu, Min Chen, et al.
Molecular Genetics & Genomic Medicine|March 4, 2020
Plasma-based microRNA signatures in early diagnosis of breast cancerXu Li, Wenjing Zou, Yuzhen Wang, et al.
Molecular Genetics & Genomic Medicine|January 24, 2020
Novel variants in COL2A1 causing rare spondyloepiphyseal dysplasia congenitaWen-Bin Zheng, Lu-Jiao Li, Di-Chen Zhao, et al.
Molecular Genetics & Genomic Medicine|March 12, 2020
Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndromeShuiyan Wu, Ying Liu, Qian Zhang, et al.
Molecular Genetics & Genomic Medicine|March 13, 2020
Whole exome sequencing identifies multiple novel candidate genes in familial gastroschisisVíctor M Salinas-Torres, Hugo L Gallardo-Blanco, Rafael A Salinas-Torres, et al.
Molecular Genetics & Genomic Medicine|March 13, 2020
Population genetic analysis of Shaanxi male Han Chinese population reveals genetic differentiation and homogenization of East AsiansLuyao Li, Xing Zou, Guanjun Zhang, et al.
Molecular Genetics & Genomic Medicine|April 4, 2020
Impact of genetic variants of ABCB1, APOB, CAV1, and NAMPT on susceptibility to pancreatic ductal adenocarcinoma in Chinese patientsBaohuan Li, Chuanzhen Zhang, Jingjing Wang, et al.
Molecular Genetics & Genomic Medicine|December 3, 2019
Social and medical need for whole genome high resolution NIPTMalgorzata I Srebniak, Maarten F C M Knapen, Lutgarde C P Govaerts, et al.
Molecular Genetics & Genomic Medicine|December 4, 2019
Two cases of von Willebrand disease type 3 in consanguineous Chinese familiesXiong Wang, Ning Tang, Yanjun Lu, et al.
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