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Yoav Zehavi

Showing results (1-10 of 19) with videos related to

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Molecular Genetics and Metabolism Reports|March 18, 2021
Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type CShiri Curelaru, Yoav Zehavi, Tal Almagor, et al.
The Israel Medical Association Journal : IMAJ|March 26, 2025
Molybdenum Cofactor Deficiency Type A disease in Northern IsraelEliyahu Fund, Hanna Mandel, Yoav Zehavi, et al.
European Journal of Medical Genetics|July 21, 2019
The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosisYael Ben-David, Rephael Halevy, Waheeb Sakran, et al.
European Journal of Endocrinology|April 23, 2024
Apparent mineralocorticoid excess in Israel: a case series and literature reviewAsaf Lebel, Efrat Ben Shalom, Rozan Mokatern, et al.
Molecular Genetics and Metabolism Reports|July 11, 2022
A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulationShiri Curelaru, Ankit K Desai, Daniel Fink, et al.
Metabolic Brain Disease|January 20, 2021
A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairmentYoav Zehavi, Ann Saada, Haneen Jabaly-Habib, et al.
Frontiers in Pediatrics|December 12, 2022
Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patientsZufit Hexner-Erlichman, Maria Veiga-da-Cunha, Yoav Zehavi, et al.
European Journal of Medical Genetics|April 9, 2017
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathyYoav Zehavi, Hanna Mandel, Arie Zehavi, et al.
Orphanet Journal of Rare Diseases|February 28, 2024
Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethalityFiras Abu Hanna, Yoav Zehavi, Eran Cohen-Barak, et al.
Metabolic Brain Disease|September 14, 2017
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levelsYoav Zehavi, Anja von Renesse, Etty Daniel-Spiegel, et al.
Pageof 2

Showing results (1-10 of 19) with videos related to

Sort By:
Pageof 2
Molecular Genetics and Metabolism Reports|March 18, 2021
Favorable outcomes following early onset oral miglustat in early infantile Niemann Pick Type CShiri Curelaru, Yoav Zehavi, Tal Almagor, et al.
The Israel Medical Association Journal : IMAJ|March 26, 2025
Molybdenum Cofactor Deficiency Type A disease in Northern IsraelEliyahu Fund, Hanna Mandel, Yoav Zehavi, et al.
European Journal of Medical Genetics|July 21, 2019
The utility of next generation sequencing in the correct diagnosis of congenital hypochloremic hypokalemic metabolic alkalosisYael Ben-David, Rephael Halevy, Waheeb Sakran, et al.
European Journal of Endocrinology|April 23, 2024
Apparent mineralocorticoid excess in Israel: a case series and literature reviewAsaf Lebel, Efrat Ben Shalom, Rozan Mokatern, et al.
Molecular Genetics and Metabolism Reports|July 11, 2022
A favorable outcome in an infantile-onset Pompe patient with cross reactive immunological material (CRIM) negative disease with high dose enzyme replacement therapy and adjusted immunomodulationShiri Curelaru, Ankit K Desai, Daniel Fink, et al.
Metabolic Brain Disease|January 20, 2021
A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairmentYoav Zehavi, Ann Saada, Haneen Jabaly-Habib, et al.
Frontiers in Pediatrics|December 12, 2022
Favorable outcome of empagliflozin treatment in two pediatric glycogen storage disease type 1b patientsZufit Hexner-Erlichman, Maria Veiga-da-Cunha, Yoav Zehavi, et al.
European Journal of Medical Genetics|April 9, 2017
De novo GRIN1 mutations: An emerging cause of severe early infantile encephalopathyYoav Zehavi, Hanna Mandel, Arie Zehavi, et al.
Orphanet Journal of Rare Diseases|February 28, 2024
Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethalityFiras Abu Hanna, Yoav Zehavi, Eran Cohen-Barak, et al.
Metabolic Brain Disease|September 14, 2017
A homozygous PIGO mutation associated with severe infantile epileptic encephalopathy and corpus callosum hypoplasia, but normal alkaline phosphatase levelsYoav Zehavi, Anja von Renesse, Etty Daniel-Spiegel, et al.
Pageof 2