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Brett H Graham

Showing results (61-70 of 92) with videos related to

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Genome Medicine|February 7, 2013
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndromeMatthew N Bainbridge, Hao Hu, Donna M Muzny, et al.
Molecular Genetics and Metabolism|August 7, 2023
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretationMay Flowers, Alexa Dickson, Marcus J Miller, et al.
Nature Communications|September 11, 2015
Increased COUP-TFII expression in adult hearts induces mitochondrial dysfunction resulting in heart failureSan-Pin Wu, Chung-Yang Kao, Leiming Wang, et al.
Molecular Genetics and Metabolism|September 20, 2015
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United StatesMarcus J Miller, Lindsay C Burrage, James B Gibson, et al.
Cell Reports|October 11, 2023
Loss of succinyl-CoA synthetase in mouse forebrain results in hypersuccinylation with perturbed neuronal transcription and metabolismMakayla S Lancaster, Byungwook Kim, Emma H Doud, et al.
European Journal of Human Genetics : EJHG|September 22, 2011
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44Sandesh C Sreenath Nagamani, Ayelet Erez, Carolyn Bay, et al.
European Journal of Human Genetics : EJHG|May 15, 2014
6q22.1 microdeletion and susceptibility to pediatric epilepsyPrzemyslaw Szafranski, Gretchen K Von Allmen, Brett H Graham, et al.
Translational Psychiatry|June 4, 2020
Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male miceTim L Emmerzaal, Graeme Preston, Bram Geenen, et al.
Human Mutation|May 28, 2010
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Przemyslaw Szafranski, Christian P Schaaf, Richard E Person, et al.
Molecular Genetics and Metabolism|June 5, 2012
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screeningGeorgianne L Arnold, Denise Salazar, Julie A Neidich, et al.
Pageof 10

Showing results (61-70 of 92) with videos related to

Sort By:
Pageof 10
Genome Medicine|February 7, 2013
De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndromeMatthew N Bainbridge, Hao Hu, Donna M Muzny, et al.
Molecular Genetics and Metabolism|August 7, 2023
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretationMay Flowers, Alexa Dickson, Marcus J Miller, et al.
Nature Communications|September 11, 2015
Increased COUP-TFII expression in adult hearts induces mitochondrial dysfunction resulting in heart failureSan-Pin Wu, Chung-Yang Kao, Leiming Wang, et al.
Molecular Genetics and Metabolism|September 20, 2015
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United StatesMarcus J Miller, Lindsay C Burrage, James B Gibson, et al.
Cell Reports|October 11, 2023
Loss of succinyl-CoA synthetase in mouse forebrain results in hypersuccinylation with perturbed neuronal transcription and metabolismMakayla S Lancaster, Byungwook Kim, Emma H Doud, et al.
European Journal of Human Genetics : EJHG|September 22, 2011
Delineation of a deletion region critical for corpus callosal abnormalities in chromosome 1q43-q44Sandesh C Sreenath Nagamani, Ayelet Erez, Carolyn Bay, et al.
European Journal of Human Genetics : EJHG|May 15, 2014
6q22.1 microdeletion and susceptibility to pediatric epilepsyPrzemyslaw Szafranski, Gretchen K Von Allmen, Brett H Graham, et al.
Translational Psychiatry|June 4, 2020
Impaired mitochondrial complex I function as a candidate driver in the biological stress response and a concomitant stress-induced brain metabolic reprogramming in male miceTim L Emmerzaal, Graeme Preston, Bram Geenen, et al.
Human Mutation|May 28, 2010
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?Przemyslaw Szafranski, Christian P Schaaf, Richard E Person, et al.
Molecular Genetics and Metabolism|June 5, 2012
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screeningGeorgianne L Arnold, Denise Salazar, Julie A Neidich, et al.
Pageof 10