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Showing results (31-40 of 37) with videos related to

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Annals of Neurology|February 22, 2018
Mutations in SCN3A cause early infantile epileptic encephalopathyTariq Zaman, Ingo Helbig, Ivana Babić Božović, et al.
Molecular Genetics and Metabolism|December 4, 2016
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletionXiaoping Huang, Jirair K Bedoyan, Didem Demirbas, et al.
JIMD Reports|August 9, 2019
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (<i>PDP1</i>) causing pyruvate dehydrogenase complex deficiencyJirair K Bedoyan, Leah Hecht, Shulin Zhang, et al.
Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Annals of Neurology|September 1, 2017
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathyYongjin Yoo, Jane Jung, Yoo-Na Lee, et al.
Neurology. Genetics|April 28, 2020
Mitochondrial diseases in North America: An analysis of the NAMDC RegistryEmanuele Barca, Yuelin Long, Victoria Cooley, et al.
Plos One|May 22, 2015
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF RegistryLouis Viollet, Gustavo Glusman, Kelley J Murphy, et al.
Pageof 4

Showing results (31-40 of 37) with videos related to

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Pageof 4
You have reached the last page of results.This site can display upto 37 results.
Annals of Neurology|February 22, 2018
Mutations in SCN3A cause early infantile epileptic encephalopathyTariq Zaman, Ingo Helbig, Ivana Babić Božović, et al.
Molecular Genetics and Metabolism|December 4, 2016
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletionXiaoping Huang, Jirair K Bedoyan, Didem Demirbas, et al.
JIMD Reports|August 9, 2019
A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (<i>PDP1</i>) causing pyruvate dehydrogenase complex deficiencyJirair K Bedoyan, Leah Hecht, Shulin Zhang, et al.
Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
Annals of Neurology|September 1, 2017
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathyYongjin Yoo, Jane Jung, Yoo-Na Lee, et al.
Neurology. Genetics|April 28, 2020
Mitochondrial diseases in North America: An analysis of the NAMDC RegistryEmanuele Barca, Yuelin Long, Victoria Cooley, et al.
Plos One|May 22, 2015
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF RegistryLouis Viollet, Gustavo Glusman, Kelley J Murphy, et al.
Pageof 4