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Holger Prokisch

Showing results (141-150 of 395) with videos related to

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JIMD Reports|January 4, 2016
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?Charlotte Thiels, Martin Fleger, Martina Huemer, et al.
Brain : a Journal of Neurology|September 22, 2022
The phenotypic spectrum of COX20-associated mitochondrial disorderRui Ban, Robert Kopajtich, Junlan Lv, et al.
Investigative Ophthalmology & Visual Science|September 2, 2017
High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis PigmentosaJulia-Sophia Bellingrath, G Alex Ochakovski, Immanuel P Seitz, et al.
Plos One|October 8, 2013
Alterations of red cell membrane properties in neuroacanthocytosisClaudia Siegl, Patricia Hamminger, Herbert Jank, et al.
Plos Genetics|June 19, 2015
The Human Blood Metabolome-Transcriptome InterfaceJörg Bartel, Jan Krumsiek, Katharina Schramm, et al.
Journal of Inherited Metabolic Disease|May 4, 2016
Genetic cause and prevalence of hydroxyprolinemiaChristian Staufner, Tobias B Haack, Patrik Feyh, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|November 12, 2020
ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysisTamara Žigman, Katarina Šikić, Danijela Petković Ramadža, et al.
International Journal of Molecular Sciences|November 26, 2022
<i>TREML2</i> Gene Expression and Its Missense Variant rs3747742 Associate with White Matter Hyperintensity Volume and Alzheimer's Disease-Related Brain Atrophy in the General PopulationAnnemarie Luise Kühn, Stefan Frenzel, Alexander Teumer, et al.
Journal of Inherited Metabolic Disease|December 21, 2014
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disordersWolfgang Sperl, Leanne Fleuren, Peter Freisinger, et al.
Neurogenetics|July 1, 2017
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutationMiryam Carecchio, Marina Picillo, Lorella Valletta, et al.
Pageof 40

Showing results (141-150 of 395) with videos related to

Sort By:
Pageof 40
JIMD Reports|January 4, 2016
Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?Charlotte Thiels, Martin Fleger, Martina Huemer, et al.
Brain : a Journal of Neurology|September 22, 2022
The phenotypic spectrum of COX20-associated mitochondrial disorderRui Ban, Robert Kopajtich, Junlan Lv, et al.
Investigative Ophthalmology & Visual Science|September 2, 2017
High Symmetry of Visual Acuity and Visual Fields in RPGR-Linked Retinitis PigmentosaJulia-Sophia Bellingrath, G Alex Ochakovski, Immanuel P Seitz, et al.
Plos One|October 8, 2013
Alterations of red cell membrane properties in neuroacanthocytosisClaudia Siegl, Patricia Hamminger, Herbert Jank, et al.
Plos Genetics|June 19, 2015
The Human Blood Metabolome-Transcriptome InterfaceJörg Bartel, Jan Krumsiek, Katharina Schramm, et al.
Journal of Inherited Metabolic Disease|May 4, 2016
Genetic cause and prevalence of hydroxyprolinemiaChristian Staufner, Tobias B Haack, Patrik Feyh, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|November 12, 2020
ATP synthase deficiency due to m.8528T>C mutation - a novel cause of severe neonatal hyperammonemia requiring hemodialysisTamara Žigman, Katarina Šikić, Danijela Petković Ramadža, et al.
International Journal of Molecular Sciences|November 26, 2022
<i>TREML2</i> Gene Expression and Its Missense Variant rs3747742 Associate with White Matter Hyperintensity Volume and Alzheimer's Disease-Related Brain Atrophy in the General PopulationAnnemarie Luise Kühn, Stefan Frenzel, Alexander Teumer, et al.
Journal of Inherited Metabolic Disease|December 21, 2014
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disordersWolfgang Sperl, Leanne Fleuren, Peter Freisinger, et al.
Neurogenetics|July 1, 2017
Rare causes of early-onset dystonia-parkinsonism with cognitive impairment: a de novo PSEN-1 mutationMiryam Carecchio, Marina Picillo, Lorella Valletta, et al.
Pageof 40