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American Journal of Human Genetics|January 10, 2015
CODAS syndrome is associated with mutations of LONP1, encoding mitochondrial AAA+ Lon proteaseKevin A Strauss, Robert N Jinks, Erik G Puffenberger, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2017
Genomic diagnostics within a medically underserved population: efficacy and implicationsKevin A Strauss, Claudia Gonzaga-Jauregui, Karlla W Brigatti, et al.Molecular Cell|December 23, 2021
APC7 mediates ubiquitin signaling in constitutive heterochromatin in the developing mammalian brainCole J Ferguson, Olivia Urso, Tatyana Bodrug, et al.Human Molecular Genetics|October 11, 2018
Homozygosity for a mutation affecting the catalytic domain of tyrosyl-tRNA synthetase (YARS) causes multisystem diseaseKatie B Williams, Karlla W Brigatti, Erik G Puffenberger, et al.Plos One|January 27, 2012
Genetic mapping and exome sequencing identify variants associated with five novel diseasesErik G Puffenberger, Robert N Jinks, Carrie Sougnez, et al.American Journal of Human Genetics|November 5, 2016
Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly VariantNataliya Di Donato, Ying Y Jean, A Murat Maga, et al.Brain : a Journal of Neurology|June 14, 2015
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73Robert N Jinks, Erik G Puffenberger, Emma Baple, et al.Pageof 2