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Eva Morava

Showing results (291-300 of 355) with videos related to

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Brain : a Journal of Neurology|February 16, 2007
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafnessRosalba Carrozzo, Carlo Dionisi-Vici, Ulrike Steuerwald, et al.
Journal of Inherited Metabolic Disease|April 9, 2020
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylationAnna Čechová, Ruqaiah Altassan, Delphine Borgel, et al.
European Journal of Human Genetics : EJHG|August 22, 2013
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxaThatjana Gardeitchik, Miski Mohamed, Björn Fischer, et al.
Molecular Genetics and Metabolism|December 21, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spotsFederica Conte, Eva Morava, Nurulamin Abu Bakar, et al.
Nature Genetics|March 4, 2003
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humansStephen P Robertson, Stephen R F Twigg, Andrew J Sutherland-Smith, et al.
Journal of Inherited Metabolic Disease|May 18, 2020
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxaMiski Mohamed, Thatjana Gardeitchik, Shanti Balasubramaniam, et al.
JCI Insight|April 8, 2024
A complement C4-derived glycopeptide is a biomarker for PMM2-CDGKishore Garapati, Rohit Budhraja, Mayank Saraswat, et al.
The Journal of Clinical Endocrinology and Metabolism|October 15, 2010
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous familyEva Morava, Jirko Kühnisch, Jefte M Drijvers, et al.
The Journal of Pediatrics|May 22, 2016
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 DeficiencySunnie Yan-Wai Wong, Lesa J Beamer, Therese Gadomski, et al.
American Journal of Human Genetics|July 7, 2009
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathiesDirk J Lefeber, Johannes Schönberger, Eva Morava, et al.
Pageof 36

Showing results (291-300 of 355) with videos related to

Sort By:
Pageof 36
Brain : a Journal of Neurology|February 16, 2007
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafnessRosalba Carrozzo, Carlo Dionisi-Vici, Ulrike Steuerwald, et al.
Journal of Inherited Metabolic Disease|April 9, 2020
Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylationAnna Čechová, Ruqaiah Altassan, Delphine Borgel, et al.
European Journal of Human Genetics : EJHG|August 22, 2013
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxaThatjana Gardeitchik, Miski Mohamed, Björn Fischer, et al.
Molecular Genetics and Metabolism|December 21, 2020
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spotsFederica Conte, Eva Morava, Nurulamin Abu Bakar, et al.
Nature Genetics|March 4, 2003
Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humansStephen P Robertson, Stephen R F Twigg, Andrew J Sutherland-Smith, et al.
Journal of Inherited Metabolic Disease|May 18, 2020
Novel defect in phosphatidylinositol 4-kinase type 2-alpha (PI4K2A) at the membrane-enzyme interface is associated with metabolic cutis laxaMiski Mohamed, Thatjana Gardeitchik, Shanti Balasubramaniam, et al.
JCI Insight|April 8, 2024
A complement C4-derived glycopeptide is a biomarker for PMM2-CDGKishore Garapati, Rohit Budhraja, Mayank Saraswat, et al.
The Journal of Clinical Endocrinology and Metabolism|October 15, 2010
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous familyEva Morava, Jirko Kühnisch, Jefte M Drijvers, et al.
The Journal of Pediatrics|May 22, 2016
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 DeficiencySunnie Yan-Wai Wong, Lesa J Beamer, Therese Gadomski, et al.
American Journal of Human Genetics|July 7, 2009
Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathiesDirk J Lefeber, Johannes Schönberger, Eva Morava, et al.
Pageof 36