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Brett H Graham

Showing results (21-30 of 92) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2022
Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)Kuntal Sen, Lindsay C Burrage, Kimberly A Chapman, et al.
The Journal of Biological Chemistry|January 30, 2010
Neurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and diseaseBrett H Graham, Zhihong Li, Erminio P Alesii, et al.
BMC Medical Genetics|August 17, 2013
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiologyWilliam J Craigen, Brett H Graham, Lee-Jun Wong, et al.
International Journal of Molecular Sciences|July 15, 2017
Mitochondrial Dysfunction Mediated by Poly(ADP-Ribose) Polymerase-1 Activation Contributes to Hippocampal Neuronal Damage Following Status EpilepticusYi-Chen Lai, J Scott Baker, Taraka Donti, et al.
Developmental Cell|February 5, 2019
Lysosomal Signaling Promotes Longevity by Adjusting Mitochondrial ActivityPrasanna V Ramachandran, Marzia Savini, Andrew K Folick, et al.
American Journal of Medical Genetics. Part A|July 23, 2015
Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variantTamar Harel, Jennifer E Posey, Brett H Graham, et al.
American Journal of Medical Genetics. Part A|May 20, 2020
An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiologyJennifer L Stinson, Jennifer A Brault, Paula R Delk, et al.
Metabolites|April 21, 2022
Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver-Brain Axis for Lipid HomeostasisSofia Milosavljevic, Kevin E Glinton, Xiqi Li, et al.
Annals of Transplantation|February 27, 2024
Successful Sequential Liver and Isolated Intestine Transplantation for Mitochondrial Neurogastrointestinal Encephalopathy Syndrome: A Case ReportChandrashekhar A Kubal, Plamen Mihaylov, Riley Snook, et al.
Molecular Genetics and Metabolism|December 9, 2008
Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome familyJing Wang, Ariel Brautbar, Alicia K Chan, et al.
Pageof 10

Showing results (21-30 of 92) with videos related to

Sort By:
Pageof 10
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 19, 2022
Solid organ transplantation in methylmalonic acidemia and propionic acidemia: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)Kuntal Sen, Lindsay C Burrage, Kimberly A Chapman, et al.
The Journal of Biological Chemistry|January 30, 2010
Neurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and diseaseBrett H Graham, Zhihong Li, Erminio P Alesii, et al.
BMC Medical Genetics|August 17, 2013
Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiologyWilliam J Craigen, Brett H Graham, Lee-Jun Wong, et al.
International Journal of Molecular Sciences|July 15, 2017
Mitochondrial Dysfunction Mediated by Poly(ADP-Ribose) Polymerase-1 Activation Contributes to Hippocampal Neuronal Damage Following Status EpilepticusYi-Chen Lai, J Scott Baker, Taraka Donti, et al.
Developmental Cell|February 5, 2019
Lysosomal Signaling Promotes Longevity by Adjusting Mitochondrial ActivityPrasanna V Ramachandran, Marzia Savini, Andrew K Folick, et al.
American Journal of Medical Genetics. Part A|July 23, 2015
Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variantTamar Harel, Jennifer E Posey, Brett H Graham, et al.
American Journal of Medical Genetics. Part A|May 20, 2020
An apparent new syndrome of extreme short stature, microcephaly, dysmorphic faces, intellectual disability, and a bone dysplasia of unknown etiologyJennifer L Stinson, Jennifer A Brault, Paula R Delk, et al.
Metabolites|April 21, 2022
Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver-Brain Axis for Lipid HomeostasisSofia Milosavljevic, Kevin E Glinton, Xiqi Li, et al.
Annals of Transplantation|February 27, 2024
Successful Sequential Liver and Isolated Intestine Transplantation for Mitochondrial Neurogastrointestinal Encephalopathy Syndrome: A Case ReportChandrashekhar A Kubal, Plamen Mihaylov, Riley Snook, et al.
Molecular Genetics and Metabolism|December 9, 2008
Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome familyJing Wang, Ariel Brautbar, Alicia K Chan, et al.
Pageof 10