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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|March 14, 2020
Haplotype diversity and phylogenetic characteristics for Guanzhong Han population from Northwest China via 38 Y-STRs using Yfiler™ Platinum Amplification SystemLuyao Li, Lilan Yao, Xin He, 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.Pageof 252