Showing results (51-60 of 129) with videos related to

Sort By:
Pageof 13
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 29, 2026
Novel Variants Identified in Families With SNX27-Related Neurodevelopmental Disorder, Aiding in Characterizing Its Genotypic and Phenotypic SpectrumTayyaba Shan, Abrar Hussain, Anushree Acharya, et al.
Aging|March 4, 2020
ESHRD: deconvolution of brain homogenate RNA expression data to identify cell-type-specific alterations in Alzheimer's diseaseIgnazio S Piras, Christiane Bleul, Joshua S Talboom, et al.
Human Mutation|October 30, 2019
Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegiaCarmel G McCullough, Szabolcs Szelinger, Newell Belnap, et al.
European Journal of Human Genetics : EJHG|March 16, 2019
Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian RomaIsabelle Schrauwen, Béla I Melegh, Imen Chakchouk, et al.
BMC Medical Genomics|November 11, 2022
A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in GhanaSamuel Mawuli Adadey, Elvis Twumasi Aboagye, Kevin Esoh, et al.
American Journal of Medical Genetics. Part A|December 5, 2012
A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencingIsabelle Schrauwen, Manou Sommen, Jason J Corneveaux, et al.
Genes|October 29, 2020
Bi-Allelic Novel Variants in <i>CLIC5</i> Identified in a Cameroonian Multiplex Family with Non-Syndromic Hearing ImpairmentEdmond Wonkam-Tingang, Isabelle Schrauwen, Kevin K Esoh, et al.
Human Genetics|January 29, 2008
A new locus for otosclerosis, OTSC8, maps to the pericentromeric region of chromosome 9Insaf Bel Hadj Ali, Melissa Thys, Najeh Beltaief, et al.
Human Genetics|October 23, 2009
Genetic variants in the RELN gene are associated with otosclerosis in multiple European populationsIsabelle Schrauwen, Megan Ealy, Erik Fransen, et al.
Plos One|December 16, 2014
Characterization of X chromosome inactivation using integrated analysis of whole-exome and mRNA sequencingSzabolcs Szelinger, Ivana Malenica, Jason J Corneveaux, et al.
Pageof 13