Showing results (61-70 of 128) with videos related to

Sort By:
Pageof 13
Nature Neuroscience|August 15, 2017
AAV-mediated direct in vivo CRISPR screen identifies functional suppressors in glioblastomaRyan D Chow, Christopher D Guzman, Guangchuan Wang, et al.
The Journal of Clinical Investigation|June 16, 2020
Human CRY1 variants associate with attention deficit/hyperactivity disorderO Emre Onat, M Ece Kars, Şeref Gül, et al.
Cold Spring Harbor Molecular Case Studies|September 15, 2016
A novel de novo mutation in ATP1A3 and childhood-onset schizophreniaNiklas Smedemark-Margulies, Catherine A Brownstein, Sigella Vargas, et al.
Molecular Syndromology|August 7, 2025
Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn VariantsHande Kaymakcalan Celebiler, Tanyeri Barak, Devendra K Rai, et al.
Nature Genetics|April 8, 2015
Exome sequencing links mutations in PARN and RTEL1 with familial pulmonary fibrosis and telomere shorteningBridget D Stuart, Jungmin Choi, Samir Zaidi, et al.
European Journal of Human Genetics : EJHG|May 1, 2014
Homozygous loss of DIAPH1 is a novel cause of microcephaly in humansA Gulhan Ercan-Sencicek, Samira Jambi, Daniel Franjic, et al.
Genes, Chromosomes & Cancer|June 3, 2015
Whole-exome sequencing defines the mutational landscape of pheochromocytoma and identifies KMT2D as a recurrently mutated geneC Christofer Juhlin, Adam Stenman, Felix Haglund, et al.
American Journal of Human Genetics|May 3, 2011
The essential role of centrosomal NDE1 in human cerebral cortex neurogenesisMehmet Bakircioglu, Ofélia P Carvalho, Maryam Khurshid, et al.
Proceedings of the National Academy of Sciences of the United States of America|January 30, 2013
Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegenerationKaya Bilguvar, Navneet K Tyagi, Cigdem Ozkara, et al.
American Journal of Medical Genetics. Part A|February 19, 2016
Overlapping 16p13.11 deletion and gain of copies variations associated with childhood onset psychosis include genes with mechanistic implications for autism associated pathways: Two case reportsCatherine A Brownstein, Robin J Kleiman, Elizabeth C Engle, et al.
Pageof 13