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JAMA Neurology|November 24, 2015
Whole-Exome Sequencing in Familial Parkinson DiseaseJanice L Farlow, Laurie A Robak, Kurt Hetrick, et al.Journal of Biomedical Informatics|April 30, 2021
Genomic considerations for FHIR®; eMERGE implementation lessonsMullai Murugan, Lawrence J Babb, Casey Overby Taylor, et al.American Journal of Medical Genetics. Part A|June 21, 2017
Dual molecular diagnosis contributes to atypical Prader-Willi phenotype in monozygotic twinsFernanda S Jehee, Valdirene T de Oliveira, Juliana Gurgel-Giannetti, et al.Human Mutation|September 16, 2020
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published casesXimena Montenegro-Garreaud, Adam W Hansen, Michael M Khayat, et al.Nature|October 26, 2018
Temporal development of the gut microbiome in early childhood from the TEDDY studyChristopher J Stewart, Nadim J Ajami, Jacqueline L O'Brien, et al.BMC Medical Genomics|October 25, 2024
Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease riskSairam Behera, Jonathan R Belyeu, Xiao Chen, et al.BMC Research Notes|March 3, 2024
Genetic sex validation for sample tracking in next-generation sequencing clinical testingJianhong Hu, Viktoriya Korchina, Hana Zouk, et al.Research Square|October 4, 2023
Genetic Sex Validation for Sample Tracking in Clinical TestingJianhong Hu, Viktoriya Korchina, Hana Zouk, et al.Human Mutation|June 27, 2017
Heterozygous variants in ACTL6A, encoding a component of the BAF complex, are associated with intellectual disabilityRonit Marom, Mahim Jain, Lindsay C Burrage, et al.Biorxiv : the Preprint Server for Biology|October 24, 2023
Break-induced replication underlies formation of inverted triplications and generates unexpected diversity in haplotype structuresChristopher M Grochowski, Jesse D Bengtsson, Haowei Du, et al.Pageof 117