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Genome Medicine|March 30, 2013
Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencingJason O'Rawe, Tao Jiang, Guangqing Sun, et al.The Journal of Clinical Endocrinology and Metabolism|January 31, 2015
Body mass index (BMI) trajectories in infancy differ by population ancestry and may presage disparities in early childhood obesitySani M Roy, Alessandra Chesi, Frank Mentch, et al.Journal of Medical Genetics|October 26, 2010
Molecular analysis of ring chromosome 20 syndrome reveals two distinct groups of patientsLaura K Conlin, Whitney Kramer, Anne L Hutchinson, et al.European Journal of Medical Genetics|December 23, 2008
A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delayChad R Haldeman-Englert, Xiaowu Gai, Juan Carlos Perin, et al.The Journal of Pediatrics|December 23, 2017
Heterozygous Deletion Impacting SMARCAD1 in the Original Kindred with Absent Dermatoglyphs and Associated Features (Baird, 1964)Xiao Chang, Dong Li, Lifeng Tian, et al.Inflammatory Bowel Diseases|December 17, 2009
Genome wide association (GWA) predictors of anti-TNFalpha therapeutic responsiveness in pediatric inflammatory bowel diseaseMarla C Dubinsky, Ling Mei, Madison Friedman, et al.American Journal of Medical Genetics. Part A|November 22, 2012
Utility of SNP arrays in detecting, quantifying, and determining meiotic origin of tetrasomy 12p in blood from individuals with Pallister-Killian syndromeLaura K Conlin, Maninder Kaur, Kosuke Izumi, et al.Plos One|August 6, 2025
DNA methylation differences stratified by normalized fetal/placental weight ratios suggest neurodevelopmental deficits in neonates with congenital heart diseaseMarin Jacobwitz, Michael Xie, Jamie Catalano, et al.Genome Research|January 15, 2009
Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidyEdward F Attiyeh, Sharon J Diskin, Marc A Attiyeh, et al.Clinical & Experimental Ophthalmology|July 26, 2014
Value of whole exome sequencing for syndromic retinal dystrophy diagnosis in young patientsIvan Prokudin, Dong Li, Sijie He, et al.Pageof 91