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Holger Prokisch

Showing results (61-70 of 394) with videos related to

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Nature Genetics|May 4, 2023
Aberrant splicing prediction across human tissuesNils Wagner, Muhammed H Çelik, Florian R Hölzlwimmer, et al.
Molecular Genetics and Metabolism|April 5, 2011
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiencyKatharina Danhauser, Arcangela Iuso, Tobias B Haack, et al.
Plos Genetics|October 24, 2006
Assessing systems properties of yeast mitochondria through an interaction map of the organelleFabiana Perocchi, Lars J Jensen, Julien Gagneur, et al.
The EMBO Journal|February 8, 2003
Tim50, a novel component of the TIM23 preprotein translocase of mitochondriaDejana Mokranjac, Stefan A Paschen, Christian Kozany, et al.
Journal of Medical Genetics|December 25, 2013
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiencyChristopher Benjamin Jackson, Jean-Marc Nuoffer, Dagmar Hahn, et al.
The American Journal of Pathology|November 25, 2014
Oxyphil cell metaplasia in the parathyroids is characterized by somatic mitochondrial DNA mutations in NADH dehydrogenase genes and cytochrome c oxidase activity-impairing genesJosef Müller-Höcker, Sabine Schäfer, Stefan Krebs, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 4, 2005
Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegenerationAngelo Antonini, Stefano Goldwurm, Riccardo Benti, et al.
Human Molecular Genetics|December 3, 2005
The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activityChristian Johannes Gloeckner, Norbert Kinkl, Annette Schumacher, et al.
American Journal of Human Genetics|December 4, 2018
OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing DataFelix Brechtmann, Christian Mertes, Agnė Matusevičiūtė, et al.
International Journal of Neonatal Screening|March 27, 2024
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening CenterGwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, et al.
Pageof 40

Showing results (61-70 of 394) with videos related to

Sort By:
Pageof 40
Nature Genetics|May 4, 2023
Aberrant splicing prediction across human tissuesNils Wagner, Muhammed H Çelik, Florian R Hölzlwimmer, et al.
Molecular Genetics and Metabolism|April 5, 2011
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiencyKatharina Danhauser, Arcangela Iuso, Tobias B Haack, et al.
Plos Genetics|October 24, 2006
Assessing systems properties of yeast mitochondria through an interaction map of the organelleFabiana Perocchi, Lars J Jensen, Julien Gagneur, et al.
The EMBO Journal|February 8, 2003
Tim50, a novel component of the TIM23 preprotein translocase of mitochondriaDejana Mokranjac, Stefan A Paschen, Christian Kozany, et al.
Journal of Medical Genetics|December 25, 2013
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiencyChristopher Benjamin Jackson, Jean-Marc Nuoffer, Dagmar Hahn, et al.
The American Journal of Pathology|November 25, 2014
Oxyphil cell metaplasia in the parathyroids is characterized by somatic mitochondrial DNA mutations in NADH dehydrogenase genes and cytochrome c oxidase activity-impairing genesJosef Müller-Höcker, Sabine Schäfer, Stefan Krebs, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 4, 2005
Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegenerationAngelo Antonini, Stefano Goldwurm, Riccardo Benti, et al.
Human Molecular Genetics|December 3, 2005
The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activityChristian Johannes Gloeckner, Norbert Kinkl, Annette Schumacher, et al.
American Journal of Human Genetics|December 4, 2018
OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing DataFelix Brechtmann, Christian Mertes, Agnė Matusevičiūtė, et al.
International Journal of Neonatal Screening|March 27, 2024
New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening CenterGwendolyn Gramer, Saskia B Wortmann, Junmin Fang-Hoffmann, et al.
Pageof 40