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Holger Prokisch

Showing results (241-250 of 395) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)Dominic Lenz, Patricia McClean, Aydan Kansu, et al.
Brain : a Journal of Neurology|April 20, 2006
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma geneRita Horvath, Gavin Hudson, Gianfrancesco Ferrari, et al.
Journal of Clinical Immunology|August 13, 2021
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell DeficiencyDominic Lenz, Jens Pahl, Fabian Hauck, et al.
Journal of Medical Genetics|April 20, 2016
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotypeCharlotte L Alston, Caoimhe Howard, Monika Oláhová, et al.
Journal of Medical Genetics|December 28, 2011
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9Tobias B Haack, Florence Madignier, Martina Herzer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 12, 2024
Biallelic USP14 variants cause a syndromic neurodevelopmental disorderFrédéric Ebstein, Xenia Latypova, Ka Ying Sharon Hung, et al.
Brain : a Journal of Neurology|March 13, 2024
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variantBeryll Blickhäuser, Sarah L Stenton, Christiane M Neuhofer, et al.
Cell Reports|August 27, 2020
Mitochondrial Regulation of the 26S ProteasomeThomas Meul, Korbinian Berschneider, Sabine Schmitt, et al.
American Journal of Human Genetics|October 11, 2011
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulationMonika B Hartig, Arcangela Iuso, Tobias Haack, et al.
Nature Genetics|January 15, 2013
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial diseaseCornelia Kornblum, Thomas J Nicholls, Tobias B Haack, et al.
Pageof 40

Showing results (241-250 of 395) with videos related to

Sort By:
Pageof 40
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2018
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)Dominic Lenz, Patricia McClean, Aydan Kansu, et al.
Brain : a Journal of Neurology|April 20, 2006
Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma geneRita Horvath, Gavin Hudson, Gianfrancesco Ferrari, et al.
Journal of Clinical Immunology|August 13, 2021
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell DeficiencyDominic Lenz, Jens Pahl, Fabian Hauck, et al.
Journal of Medical Genetics|April 20, 2016
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotypeCharlotte L Alston, Caoimhe Howard, Monika Oláhová, et al.
Journal of Medical Genetics|December 28, 2011
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9Tobias B Haack, Florence Madignier, Martina Herzer, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 12, 2024
Biallelic USP14 variants cause a syndromic neurodevelopmental disorderFrédéric Ebstein, Xenia Latypova, Ka Ying Sharon Hung, et al.
Brain : a Journal of Neurology|March 13, 2024
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variantBeryll Blickhäuser, Sarah L Stenton, Christiane M Neuhofer, et al.
Cell Reports|August 27, 2020
Mitochondrial Regulation of the 26S ProteasomeThomas Meul, Korbinian Berschneider, Sabine Schmitt, et al.
American Journal of Human Genetics|October 11, 2011
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulationMonika B Hartig, Arcangela Iuso, Tobias Haack, et al.
Nature Genetics|January 15, 2013
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial diseaseCornelia Kornblum, Thomas J Nicholls, Tobias B Haack, et al.
Pageof 40