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Eva Morava

Showing results (311-320 of 355) with videos related to

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American Journal of Human Genetics|April 16, 2019
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDGSilvia Radenkovic, Matthew J Bird, Tim L Emmerzaal, et al.
Annals of Neurology|February 29, 2008
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating systemAntoon J M Janssen, Markus Schuelke, Jan A M Smeitink, et al.
Neuropediatrics|February 3, 2015
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndromeSaskia B Wortmann, Peter M van Hasselt, Ivo Barić, et al.
Biorxiv : the Preprint Server for Biology|September 2, 2025
Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathyAfitz Da Silva, Samuel Boris Tene Tadoum, Irena J J Muffels, et al.
Human Molecular Genetics|March 27, 2009
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survivalVishwanathan Hucthagowder, Eva Morava, Uwe Kornak, et al.
Science Advances|April 15, 2026
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretationRobert Wang, Feng Wang, Nicole DeBruyne, et al.
Brain : a Journal of Neurology|February 26, 2014
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiencyMonique Van Scherpenzeel, Sharita Timal, Daisy Rymen, et al.
Circulation|May 24, 2019
N-Glycosylation Defects in Humans Lower Low-Density Lipoprotein Cholesterol Through Increased Low-Density Lipoprotein Receptor ExpressionMarjolein A W van den Boogert, Lars E Larsen, Lubna Ali, et al.
Science (New York, N.Y.)|September 18, 2010
IDH2 mutations in patients with D-2-hydroxyglutaric aciduriaMartijn Kranendijk, Eduard A Struys, Emile van Schaftingen, et al.
Molecular Genetics and Metabolism|September 17, 2013
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxaAikaterini Dimopoulou, Björn Fischer, Thatjana Gardeitchik, et al.
Pageof 36

Showing results (311-320 of 355) with videos related to

Sort By:
Pageof 36
American Journal of Human Genetics|April 16, 2019
The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDGSilvia Radenkovic, Matthew J Bird, Tim L Emmerzaal, et al.
Annals of Neurology|February 29, 2008
Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating systemAntoon J M Janssen, Markus Schuelke, Jan A M Smeitink, et al.
Neuropediatrics|February 3, 2015
Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndromeSaskia B Wortmann, Peter M van Hasselt, Ivo Barić, et al.
Biorxiv : the Preprint Server for Biology|September 2, 2025
Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathyAfitz Da Silva, Samuel Boris Tene Tadoum, Irena J J Muffels, et al.
Human Molecular Genetics|March 27, 2009
Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survivalVishwanathan Hucthagowder, Eva Morava, Uwe Kornak, et al.
Science Advances|April 15, 2026
Targeted long-read RNA sequencing for rare disease diagnosis and variant interpretationRobert Wang, Feng Wang, Nicole DeBruyne, et al.
Brain : a Journal of Neurology|February 26, 2014
Diagnostic serum glycosylation profile in patients with intellectual disability as a result of MAN1B1 deficiencyMonique Van Scherpenzeel, Sharita Timal, Daisy Rymen, et al.
Circulation|May 24, 2019
N-Glycosylation Defects in Humans Lower Low-Density Lipoprotein Cholesterol Through Increased Low-Density Lipoprotein Receptor ExpressionMarjolein A W van den Boogert, Lars E Larsen, Lubna Ali, et al.
Science (New York, N.Y.)|September 18, 2010
IDH2 mutations in patients with D-2-hydroxyglutaric aciduriaMartijn Kranendijk, Eduard A Struys, Emile van Schaftingen, et al.
Molecular Genetics and Metabolism|September 17, 2013
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxaAikaterini Dimopoulou, Björn Fischer, Thatjana Gardeitchik, et al.
Pageof 36