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E Morava

Showing results (31-40 of 96) with videos related to

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Molecular Genetics and Metabolism|August 10, 2025
Corrigendum to 'Phosphodiesterase type 5 inhibition as a therapeutic strategy in primary mitochondrial disease: Evidence from patient fibroblasts and clinical observations' [Molecular Genetics and Metabolism Volume 146, Issues 1-2 (2025) Pages 109197]G Preston, N Jacob, I Elsharkawi, et al.
Neurology|October 7, 2009
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré typeE Morava, R A Wevers, M A Willemsen, et al.
Genetic Counseling (Geneva, Switzerland)|January 22, 2005
Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomaliesE Morava, K E Jackson, F Tsien, et al.
American Journal of Medical Genetics|June 8, 2000
De novo partial duplication of long arm of chromosome 13: dup(13)(q12-->q14)R Hermann, G Soltész, E Morava, et al.
American Journal of Medical Genetics|August 3, 2001
Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomaliesM Riegel, E Morava, M Czakó, et al.
American Journal of Medical Genetics|August 26, 1998
Report of a new patient with transposition of the great arteries with deletion of 22q11.2M Marble, E Morava, R Lopez, et al.
Journal of Inherited Metabolic Disease|November 14, 2024
Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variantsI J J Muffels, M Sadek, T Kozicz, et al.
Genetic Counseling (Geneva, Switzerland)|February 1, 2003
Tissue specific mosaicism of trisomy 9 in a patient with severe torsion scoliosisE Morava, M Czakó, M Aszmann, et al.
Journal of Inherited Metabolic Disease|March 10, 2025
The Therapeutic Future for Congenital Disorders of GlycosylationI J J Muffels, T Kozicz, E O Perlstein, et al.
The Journal of Pediatrics|August 1, 1994
Carnitine-dependent changes of metabolic fuel consumption during long-term treatment with valproic acidB Melegh, M Pap, E Morava, et al.
Pageof 10

Showing results (31-40 of 96) with videos related to

Sort By:
Pageof 10
Molecular Genetics and Metabolism|August 10, 2025
Corrigendum to 'Phosphodiesterase type 5 inhibition as a therapeutic strategy in primary mitochondrial disease: Evidence from patient fibroblasts and clinical observations' [Molecular Genetics and Metabolism Volume 146, Issues 1-2 (2025) Pages 109197]G Preston, N Jacob, I Elsharkawi, et al.
Neurology|October 7, 2009
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debré typeE Morava, R A Wevers, M A Willemsen, et al.
Genetic Counseling (Geneva, Switzerland)|January 22, 2005
Trisomy 1q43 syndrome: a consistent phenotype with macrocephaly, characteristic face, developmental delay and cardiac anomaliesE Morava, K E Jackson, F Tsien, et al.
American Journal of Medical Genetics|June 8, 2000
De novo partial duplication of long arm of chromosome 13: dup(13)(q12-->q14)R Hermann, G Soltész, E Morava, et al.
American Journal of Medical Genetics|August 3, 2001
Distal deletion, del(2)(q33.3q33.3), in a patient with severe growth deficiency and minor anomaliesM Riegel, E Morava, M Czakó, et al.
American Journal of Medical Genetics|August 26, 1998
Report of a new patient with transposition of the great arteries with deletion of 22q11.2M Marble, E Morava, R Lopez, et al.
Journal of Inherited Metabolic Disease|November 14, 2024
Assessing age of onset and clinical symptoms over time in patients with heterozygous pathogenic DHDDS variantsI J J Muffels, M Sadek, T Kozicz, et al.
Genetic Counseling (Geneva, Switzerland)|February 1, 2003
Tissue specific mosaicism of trisomy 9 in a patient with severe torsion scoliosisE Morava, M Czakó, M Aszmann, et al.
Journal of Inherited Metabolic Disease|March 10, 2025
The Therapeutic Future for Congenital Disorders of GlycosylationI J J Muffels, T Kozicz, E O Perlstein, et al.
The Journal of Pediatrics|August 1, 1994
Carnitine-dependent changes of metabolic fuel consumption during long-term treatment with valproic acidB Melegh, M Pap, E Morava, et al.
Pageof 10