Showing results (1001-1010 of 1,044) with videos related to
Sort By:
Pageof 105
Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 25, 2020
CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indelsBo Yuan, Lei Wang, Pengfei Liu, et al.European Journal of Human Genetics : EJHG|August 30, 2012
Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalitiesSeema R Lalani, Chad Shaw, Xueqing Wang, et al.Pediatrics|January 6, 2010
Evaluation, diagnosis, and treatment of gastrointestinal disorders in individuals with ASDs: a consensus reportTimothy Buie, Daniel B Campbell, George J Fuchs, et al.Genome Research|May 10, 2013
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traitsPiotr Dittwald, Tomasz Gambin, Przemyslaw Szafranski, et al.Journal of Medical Genetics|November 17, 2009
Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head sizeMarwan Shinawi, Pengfei Liu, Sung-Hae L Kang, et al.Nature Medicine|February 22, 2019
Publisher Correction: Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNAJinglan Zhang, Jianli Li, Jennifer B Saucier, et al.Autism Research : Official Journal of the International Society for Autism Research|May 14, 2014
Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2Pauline Chaste, Stephan J Sanders, Kommu N Mohan, et al.Nature Medicine|January 30, 2019
Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNAJinglan Zhang, Jianli Li, Jennifer B Saucier, et al.Water Research|June 6, 2022
Longitudinal SARS-CoV-2 RNA wastewater monitoring across a range of scales correlates with total and regional COVID-19 burden in a well-defined urban populationNicole Acosta, María A Bautista, Barbara J Waddell, et al.Genome Medicine|January 8, 2016
POGZ truncating alleles cause syndromic intellectual disabilityJanson White, Christine R Beck, Tamar Harel, et al.Pageof 105