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Eva Morava

Showing results (51-60 of 355) with videos related to

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American Journal of Medical Genetics. Part A|December 28, 2002
Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two familiesEva Morava, Tamás Illés, János Weisenbach, et al.
Journal of Inherited Metabolic Disease|February 27, 2023
The role of PGM1isoform 2 in PGM1-CDG: One step closer to genotype-phenotype correlation?Silvia Radenkovic, Jon K Laerdahl, Paul H Backe, et al.
Pediatric Nephrology (Berlin, Germany)|June 25, 2017
Liver involvement in kidney disease and vice versaKaren Van Hoeve, Djalila Mekahli, Eva Morava, et al.
Annals of Clinical Biochemistry|January 25, 2003
Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuriaEva Morava, György Kosztolányi, Udo F H Engelke, et al.
Molecular Genetics and Metabolism Reports|September 1, 2022
Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variantsJehan Mousa, Larissa Veres, Anab Mohamed, et al.
Journal of Clinical Immunology|January 11, 2023
Pathogenic DDOST Variant Is Associated with Humoral Immune DeficiencyAndrea Sitek, Anna Ligezka, Rohit Budhraja, et al.
Pediatric Dermatology|February 21, 2014
Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylationDorus Kouwenberg, Thatjana Gardeitchik, Miski Mohamed, et al.
Neurology International|May 18, 2011
Aerobic exercise in children with oxidative phosphorylation defectsLuuk Schreuder, Gera Peters, Ria Nijhuis-van der Sanden, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutationsDorus Kouwenberg, Thatjana Gardeitchik, Ron A Wevers, et al.
Molecular Genetics and Metabolism|July 24, 2025
Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 casesRuqaiah Altassan, Sarah K Aldhahri, Georgia Macdonald, et al.
Pageof 36

Showing results (51-60 of 355) with videos related to

Sort By:
Pageof 36
American Journal of Medical Genetics. Part A|December 28, 2002
Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two familiesEva Morava, Tamás Illés, János Weisenbach, et al.
Journal of Inherited Metabolic Disease|February 27, 2023
The role of PGM1isoform 2 in PGM1-CDG: One step closer to genotype-phenotype correlation?Silvia Radenkovic, Jon K Laerdahl, Paul H Backe, et al.
Pediatric Nephrology (Berlin, Germany)|June 25, 2017
Liver involvement in kidney disease and vice versaKaren Van Hoeve, Djalila Mekahli, Eva Morava, et al.
Annals of Clinical Biochemistry|January 25, 2003
Reversal of clinical symptoms and radiographic abnormalities with protein restriction and ascorbic acid in alkaptonuriaEva Morava, György Kosztolányi, Udo F H Engelke, et al.
Molecular Genetics and Metabolism Reports|September 1, 2022
Acetazolamide treatment in late onset CDG type 1 due to biallelic pathogenic DHDDS variantsJehan Mousa, Larissa Veres, Anab Mohamed, et al.
Journal of Clinical Immunology|January 11, 2023
Pathogenic DDOST Variant Is Associated with Humoral Immune DeficiencyAndrea Sitek, Anna Ligezka, Rohit Budhraja, et al.
Pediatric Dermatology|February 21, 2014
Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylationDorus Kouwenberg, Thatjana Gardeitchik, Miski Mohamed, et al.
Neurology International|May 18, 2011
Aerobic exercise in children with oxidative phosphorylation defectsLuuk Schreuder, Gera Peters, Ria Nijhuis-van der Sanden, et al.
American Journal of Medical Genetics. Part A|August 12, 2011
Recognizable phenotype with common occurrence of microcephaly, psychomotor retardation, but no spontaneous bone fractures in autosomal recessive cutis laxa type IIB due to PYCR1 mutationsDorus Kouwenberg, Thatjana Gardeitchik, Ron A Wevers, et al.
Molecular Genetics and Metabolism|July 24, 2025
Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 casesRuqaiah Altassan, Sarah K Aldhahri, Georgia Macdonald, et al.
Pageof 36