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Translational Research : the Journal of Laboratory and Clinical Medicine|November 21, 2023
High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number VariationsHui-Qi Qu, Joseph T Glessner, Jingchun Qu, et al.
Molecular Genetics & Genomic Medicine|February 21, 2022
A novel unbalanced translocation between chromosomes 5p and 18q leading to dysmorphology and global developmental delayGiavanna Verdi, Dong Li, Sarah H Elsea, et al.
Genes|April 30, 2021
Common Variation in Cytoskeletal Genes is Associated with Conotruncal Heart DefectsFadi I Musfee, A J Agopian, Elizabeth Goldmuntz, et al.
Journal of Immunology (Baltimore, Md. : 1950)|October 2, 2009
A cis-acting regulatory variant in the IL2RA locusHui-Qi Qu, Dominique J Verlaan, Bing Ge, et al.
American Journal of Medical Genetics. Part A|June 7, 2016
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional casesYuri A Zarate, Elizabeth Bhoj, Julie Kaylor, et al.
Gastroenterology|January 23, 2013
Evidence from human and zebrafish that GPC1 is a biliary atresia susceptibility geneShuang Cui, Melissa Leyva-Vega, Ellen A Tsai, et al.
American Journal of Human Genetics|June 5, 2013
Large sample size, wide variant spectrum, and advanced machine-learning technique boost risk prediction for inflammatory bowel diseaseZhi Wei, Wei Wang, Jonathan Bradfield, et al.
Pediatrics|March 11, 2015
Comorbidity of physical and mental disorders in the neurodevelopmental genomics cohort studyKathleen R Merikangas, Monica E Calkins, Marcy Burstein, et al.
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