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Communications Biology|June 13, 2023
From fossils to mindAlexandra A de Sousa, Amélie Beaudet, Tanya Calvey, et al.Cell Reports|August 30, 2018
Rapid and Integrative Discovery of Retina Regulatory MoleculesNicholas E Albrecht, Jonathan Alevy, Danye Jiang, et al.Journal of Autism and Developmental Disorders|November 18, 2016
The Cognitive and Behavioral Phenotypes of Individuals with CHRNA7 DuplicationsM A Gillentine, L N Berry, R P Goin-Kochel, et al.Nucleic Acids Research|December 17, 2016
Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohortTomasz Gambin, Zeynep C Akdemir, Bo Yuan, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 11, 2016
The complex behavioral phenotype of 15q13.3 microdeletion syndromeMark N Ziats, Robin P Goin-Kochel, Leandra N Berry, et al.Antimicrobial Agents and Chemotherapy|July 28, 2010
Discovery of novel orally bioavailable oxaborole 6-carboxamides that demonstrate cure in a murine model of late-stage central nervous system african trypanosomiasisBakela Nare, Stephen Wring, Cyrus Bacchi, et al.Plos Genetics|March 29, 2014
Heterozygous de novo and inherited mutations in the smooth muscle actin (ACTG2) gene underlie megacystis-microcolon-intestinal hypoperistalsis syndromeMichael F Wangler, Claudia Gonzaga-Jauregui, Tomasz Gambin, et al.American Journal of Medical Genetics. Part A|January 5, 2011
Angelman syndrome: Mutations influence features in early childhoodWen-Hann Tan, Carlos A Bacino, Steven A Skinner, et al.American Journal of Human Genetics|June 13, 2017
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis SyndromeDanny Halim, Erwin Brosens, Françoise Muller, et al.The New England Journal of Medicine|December 14, 2016
Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationJennifer E Posey, Tamar Harel, Pengfei Liu, et al.Pageof 105