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Hanna Mandel

Showing results (81-90 of 127) with videos related to

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Journal of Medical Genetics|November 13, 2015
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutationRonen Spiegel, Ann Saada, Padraig J Flannery, et al.
Clinical Genetics|July 20, 2020
COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex developmentHanna Mandel, Nehama Cohen Kfir, Ayalla Fedida, et al.
Biomedicines|August 6, 2021
Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics AspectsHava Peretz, Ayala Lagziel, Florian Bittner, et al.
American Journal of Human Genetics|January 21, 2004
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix proteinValeria Tiranti, Pio D'Adamo, Egill Briem, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 10, 2026
Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiencyLuisa Averdunk, Karin Konzett, Hanna Mandel, et al.
European Journal of Human Genetics : EJHG|August 1, 2025
Biallelic MED29 variants cause pontocerebellar hypoplasia with cataractsLeo Arkush, Geeske M van Woerden, Limor Ziv, et al.
Journal of Clinical Medicine|July 27, 2019
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label TrialBridget E Bax, Michelle Levene, Murray D Bain, et al.
Frontiers in Genetics|October 7, 2022
Vici syndrome in Israel: Clinical and molecular insightsOdelia Chorin, Yoel Hirsch, Rachel Rock, et al.
Nucleic Acids Research|November 22, 2024
Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MSMarisa I Mendes, Nicole I Wolf, Joëlle Rudinger-Thirion, et al.
Human Genomics|February 28, 2025
Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotypeAdel Shalata, Ann Saada, Mohammed Mahroum, et al.
Pageof 13

Showing results (81-90 of 127) with videos related to

Sort By:
Pageof 13
Journal of Medical Genetics|November 13, 2015
Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutationRonen Spiegel, Ann Saada, Padraig J Flannery, et al.
Clinical Genetics|July 20, 2020
COG6-CDG: Expanding the phenotype with emphasis on glycosylation defects involved in the causation of male disorders of sex developmentHanna Mandel, Nehama Cohen Kfir, Ayalla Fedida, et al.
Biomedicines|August 6, 2021
Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics AspectsHava Peretz, Ayala Lagziel, Florian Bittner, et al.
American Journal of Human Genetics|January 21, 2004
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix proteinValeria Tiranti, Pio D'Adamo, Egill Briem, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 10, 2026
Tyrosine supplementation with high-protein diet as a therapeutic strategy for YARS1 deficiencyLuisa Averdunk, Karin Konzett, Hanna Mandel, et al.
European Journal of Human Genetics : EJHG|August 1, 2025
Biallelic MED29 variants cause pontocerebellar hypoplasia with cataractsLeo Arkush, Geeske M van Woerden, Limor Ziv, et al.
Journal of Clinical Medicine|July 27, 2019
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label TrialBridget E Bax, Michelle Levene, Murray D Bain, et al.
Frontiers in Genetics|October 7, 2022
Vici syndrome in Israel: Clinical and molecular insightsOdelia Chorin, Yoel Hirsch, Rachel Rock, et al.
Nucleic Acids Research|November 22, 2024
Simultaneous determination of cytosolic aminoacyl-tRNA synthetase activities by LC-MS/MSMarisa I Mendes, Nicole I Wolf, Joëlle Rudinger-Thirion, et al.
Human Genomics|February 28, 2025
Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotypeAdel Shalata, Ann Saada, Mohammed Mahroum, et al.
Pageof 13