Showing results (381-390 of 645) with videos related to

Sort By:
Pageof 65
Genome Medicine|March 29, 2022
Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research ProgramEric Venner, Donna Muzny, Joshua D Smith, et al.
Cold Spring Harbor Molecular Case Studies|March 17, 2017
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutationRonak M Patel, David Liu, Claudia Gonzaga-Jauregui, et al.
Nucleic Acids Research|December 17, 2016
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohortTomasz Gambin, Zeynep C Akdemir, Bo Yuan, et al.
Molecular Biology and Evolution|May 2, 2017
Evolutionary History of Chemosensory-Related Gene Families across the ArthropodaSeong-Il Eyun, Ho Young Soh, Marijan Posavi, et al.
Genome Medicine|December 31, 2025
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian familiesHaowei Du, Ming Yin Lun, Lidiia Gagarina, et al.
Nature Genetics|March 14, 2017
Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformationsXia Wang, Wu-Lin Charng, Chun-An Chen, et al.
Plos Genetics|March 29, 2014
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndromeMichael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, et al.
Nature Communications|March 2, 2018
Sheep genome functional annotation reveals proximal regulatory elements contributed to the evolution of modern breedsMarina Naval-Sanchez, Quan Nguyen, Sean McWilliam, et al.
American Journal of Human Genetics|July 8, 2017
REST Final-Exon-Truncating Mutations Cause Hereditary Gingival FibromatosisYavuz Bayram, Janson J White, Nursel Elcioglu, et al.
Molecular Genetics & Genomic Medicine|November 30, 2016
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunctionHanne S Sorte, Liv T Osnes, Børre Fevang, et al.
Pageof 65