Results 151 to 160 of about 73,831 (171)

Sa1624 WHOLE EXOME/GENOME SEQUENCING IN CYCLIC VOMITING SYNDROME REVEALS MULTIPLE CANDIDATE GENES, SUGGESTING A MODEL OF ELEVATED INTRACELLULAR CATIONS AND MITOCHONDRIAL DYSFUNCTION IN VAGAL AFFERENTS

Gastroenterology, 2023
Omri Bar, Laurie Y. Ebenau, Kellee A. Weiner, Mark Mintz, Richard G. Boles   +4 more
openaire   +1 more source

Whole Exome/Genome Sequencing in Cyclic Vomiting Syndrome, a Migraine Variant, Reveals Multiple Candidate Genes, Especially in Cation Channels, Suggesting a Mechanism of Cellular Overexcitation (S41.007)

Neurology, 2023
Omri Bar, Laurie Ebenau, Kellee Weiner, Mark Mintz, Richard Boles   +4 more
openaire   +1 more source

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

Cell, 2020
F Kyle Satterstrom, Jack A Kosmicki, Jiebiao Wang   +2 more
exaly  

Exome sequencing and analysis of 454,787 UK Biobank participants

Nature, 2021
Joelle Mbatchou, Michael D Kessler Ba, Adam E Locke   +2 more
exaly  

Exome Sequencing for Prenatal Diagnosis in Nonimmune Hydrops Fetalis

New England Journal of Medicine, 2020
Teresa N Sparks, Ilina D Pluym, Stephan J Sanders   +2 more
exaly  

Exome sequencing as a tool for Mendelian disease gene discovery

Nature Reviews Genetics, 2011
Michael J Bamshad, Holly K Tabor, Jay Shendure   +2 more
exaly  

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

New England Journal of Medicine, 2013
Yaping Yang, Donna M Muzny, Jeffrey G Reid   +2 more
exaly  

Diagnostic Clinical Genome and Exome Sequencing

New England Journal of Medicine, 2014
Leslie G Biesecker, Robert C Green
exaly  

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

Nature, 2020
Cristopher V Van Hout, Claudia Gonzaga-Jauregui, Alexander H Li   +2 more
exaly  

Diagnostic Utility of Exome Sequencing for Kidney Disease

New England Journal of Medicine, 2019
Maddalena Marasa, Slavé Petrovski, Hila Milo-Rasouly   +2 more
exaly