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Human Molecular Genetics|April 5, 2018
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic herniaValerie K Jordan, Tyler F Beck, Andres Hernandez-Garcia, et al.European Journal of Human Genetics : EJHG|February 11, 2016
Association of the IGF1 gene with fasting insulin levelsSara M Willems, Belinda K Cornes, Jennifer A Brody, et al.Genome Medicine|October 28, 2022
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variationHaowei Du, Angad Jolly, Christopher M Grochowski, et al.Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Closing the gap: Solving complex medically relevant genes at scaleMedhat Mahmoud, John Harting, Holly Corbitt, et al.Nature|February 28, 2012
Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomesJennifer F Hughes, Helen Skaletsky, Laura G Brown, et al.Biorxiv : the Preprint Server for Biology|July 3, 2023
Functional Genomics of Gastrointestinal Escherichia coli Isolated from Patients with Cancer and DiarrheaHannah Carter, Justin Clark, Lily G Carlin, et al.Pediatric Hematology and Oncology|June 27, 2023
Circulating tumor DNA sequencing of pediatric solid and brain tumor patients: An institutional feasibility studyRoss Mangum, Jacquelyn Reuther, Koel Sen Baksi, 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.Pageof 65