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Hanna Mandel

Showing results (51-60 of 127) with videos related to

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Journal of Medical Genetics|December 15, 2010
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndromeRonen Spiegel, Morad Khayat, Stavit A Shalev, et al.
Journal of Inherited Metabolic Disease|November 15, 2015
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening programJonathan Rips, Shlomo Almashanu, Hanna Mandel, et al.
Pediatric Nephrology (Berlin, Germany)|March 3, 2022
Acute hemodialysis therapy in neonates with inborn errors of metabolismIsrael Eisenstein, Shirley Pollack, Amir Hadash, et al.
Metabolic Brain Disease|January 15, 2019
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and reviewYoav Zehavi, Hanna Mandel, Ayelet Eran, et al.
Molecular Genetics and Metabolism Reports|January 18, 2021
A recurring <i>NFS1</i> pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomesTova Hershkovitz, Alina Kurolap, Galit Tal, et al.
American Journal of Human Genetics|April 10, 2012
A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndromeAdi Mory, Efrat Dagan, Barbara Illi, et al.
Journal of Human Genetics|March 24, 2019
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4Tova Hershkovitz, Alina Kurolap, Claudia Gonzaga-Jauregui, et al.
Molecular Genetics and Metabolism|April 25, 2006
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patientsRuth Bargal, Marsha Zeigler, Bassam Abu-Libdeh, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 17, 2018
Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutationZvi Leibovitz, Hanna Mandel, Tzipora C Falik-Zaccai, et al.
Journal of Clinical Medicine|April 10, 2019
Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal EncephalomyopathyMichelle Levene, Murray D Bain, Nicholas F Moran, et al.
Pageof 13

Showing results (51-60 of 127) with videos related to

Sort By:
Pageof 13
Journal of Medical Genetics|December 15, 2010
TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndromeRonen Spiegel, Morad Khayat, Stavit A Shalev, et al.
Journal of Inherited Metabolic Disease|November 15, 2015
Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening programJonathan Rips, Shlomo Almashanu, Hanna Mandel, et al.
Pediatric Nephrology (Berlin, Germany)|March 3, 2022
Acute hemodialysis therapy in neonates with inborn errors of metabolismIsrael Eisenstein, Shirley Pollack, Amir Hadash, et al.
Metabolic Brain Disease|January 15, 2019
Severe infantile epileptic encephalopathy associated with D-glyceric aciduria: report of a novel case and reviewYoav Zehavi, Hanna Mandel, Ayelet Eran, et al.
Molecular Genetics and Metabolism Reports|January 18, 2021
A recurring <i>NFS1</i> pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomesTova Hershkovitz, Alina Kurolap, Galit Tal, et al.
American Journal of Human Genetics|April 10, 2012
A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndromeAdi Mory, Efrat Dagan, Barbara Illi, et al.
Journal of Human Genetics|March 24, 2019
A novel TUFM homozygous variant in a child with mitochondrial cardiomyopathy expands the phenotype of combined oxidative phosphorylation deficiency 4Tova Hershkovitz, Alina Kurolap, Claudia Gonzaga-Jauregui, et al.
Molecular Genetics and Metabolism|April 25, 2006
When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patientsRuth Bargal, Marsha Zeigler, Bassam Abu-Libdeh, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 17, 2018
Walker-Warburg syndrome and tectocerebellar dysraphia: A novel association caused by a homozygous DAG1 mutationZvi Leibovitz, Hanna Mandel, Tzipora C Falik-Zaccai, et al.
Journal of Clinical Medicine|April 10, 2019
Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal EncephalomyopathyMichelle Levene, Murray D Bain, Nicholas F Moran, et al.
Pageof 13