Showing results (361-370 of 2,511) with videos related to

Sort By:
Pageof 252
Molecular Genetics & Genomic Medicine|June 6, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technologyJianchao Zheng, Hongyun Zhang, Santasree Banerjee, et al.
Molecular Genetics & Genomic Medicine|June 7, 2019
Reduced ribosomal RNA expression and unchanged ribosomal DNA promoter methylation in oral squamous cell carcinomaShanshan Ha, Hong Zhou, Mayank Gautam, et al.
Molecular Genetics & Genomic Medicine|June 15, 2019
Identification of a novel large deletion and other copy number variations in the CFTR gene in patients with Cystic Fibrosis from a multiethnic populationRaisa da Silva Martins, Mario Campos Junior, Aline Dos Santos Moreira, et al.
Molecular Genetics & Genomic Medicine|June 15, 2019
Mutational Analysis of TYR, OCA2, and SLC45A2 Genes in Chinese Families with Oculocutaneous AlbinismYe Lin, Xihui Chen, Ying Yang, et al.
Molecular Genetics & Genomic Medicine|April 12, 2019
Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4Gerarda Cappuccio, Raffaella Brunetti-Pierri, Annalaura Torella, et al.
Molecular Genetics & Genomic Medicine|April 18, 2019
Identification of novel mutations in preaxial polydactyly patients through whole-exome sequencingTao Wang, Zhaopeng Xuan, Yichen Dou, et al.
Molecular Genetics & Genomic Medicine|June 29, 2019
Functional characterization of a SNP (F51S) found in human alpha 1-antitrypsinHong-Nhung Trinh, Sei-Heon Jang, ChangWoo Lee
Molecular Genetics & Genomic Medicine|June 29, 2019
Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletionEmmanuelle Souzeau, Andrew Dubowsky, Jonathan B Ruddle, et al.
Molecular Genetics & Genomic Medicine|October 21, 2021
A +3 variant at a donor splice site leads to a skipping of the MYH11 exon 32, a recurrent RNA defect causing Heritable Thoracic Aortic Aneurysm and Dissection and/or Patent Ductus ArteriosusBertrand Chesneau, Aurélie Plancke, Guillaume Rolland, et al.
Molecular Genetics & Genomic Medicine|September 29, 2021
Heritability and genome-wide association study of blood pressure in Chinese adult twinsJiahao Chen, Weijing Wang, Zhaoying Li, et al.
Pageof 252