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Plos Genetics|September 1, 2017
MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamusPatricia Blanchet, Martina Bebin, Shaam Bruet, et al.Blood|June 7, 2008
A genome-wide scan for common genetic variants with a large influence on warfarin maintenance doseGregory M Cooper, Julie A Johnson, Taimour Y Langaee, et al.Genome Medicine|November 22, 2022
Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencingKevin M Bowling, Michelle L Thompson, Melissa A Kelly, et al.Science (New York, N.Y.)|November 20, 2012
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disordersBrian J O'Roak, Laura Vives, Wenqing Fu, et al.Neurology|March 14, 2014
GABRA1 and STXBP1: novel genetic causes of Dravet syndromeGemma L Carvill, Sarah Weckhuysen, Jacinta M McMahon, et al.Plos One|December 7, 2013
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disordersLily Paemka, Vinit B Mahajan, Jessica M Skeie, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 2, 2026
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert PanelLacey Smith, Emily Bonkowski, Anna Prentice, et al.Nature Neuroscience|June 3, 2024
Multiomic profiling of transcription factor binding and function in human brainJacob M Loupe, Ashlyn G Anderson, Lindsay F Rizzardi, et al.Neurology. Genetics|November 23, 2016
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsyIlaria Guella, Linda Huh, Marna B McKenzie, et al.Biorxiv : the Preprint Server for Biology|December 23, 2024
StarPhase: Comprehensive Phase-Aware Pharmacogenomic Diplotyper for Long-Read Sequencing DataJames M Holt, John Harting, Xiao Chen, et al.Pageof 38