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Gali Heimer

Showing results (31-40 of 55) with videos related to

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Human Mutation|November 7, 2019
Netrin-G2 dysfunction causes a Rett-like phenotype with areflexiaGali Heimer, Geeske M van Woerden, Ortal Barel, et al.
Autophagy|November 21, 2020
A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulationBat-Chen Tamim-Yecheskel, Milana Fraiberg, Kamilya Kokabi, et al.
Molecular Therapy. Nucleic Acids|February 3, 2025
Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorderInna Shomer, Nofar Mor, Shaul Raviv, et al.
Nature Metabolism|August 31, 2023
A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levelsDebdeep Dutta, Oguz Kanca, Seul Kee Byeon, et al.
International Journal of Molecular Sciences|July 12, 2025
A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCsMahmood Ali Saleh, Maria Boichuck, Aner Ottolenghi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 7, 2015
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disabilityGali Heimer, Danit Oz-Levi, Eran Eyal, 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.
Orphanet Journal of Rare Diseases|March 19, 2025
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndromeOdelia Chorin, Lior Greenbaum, Shelly Lev-Hochberg, et al.
American Journal of Human Genetics|February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding AbnormalitiesMatias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
Molecular Genetics and Metabolism|August 26, 2019
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutationBen Pode-Shakked, Gali Heimer, Thierry Vilboux, et al.
Pageof 6

Showing results (31-40 of 55) with videos related to

Sort By:
Pageof 6
Human Mutation|November 7, 2019
Netrin-G2 dysfunction causes a Rett-like phenotype with areflexiaGali Heimer, Geeske M van Woerden, Ortal Barel, et al.
Autophagy|November 21, 2020
A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulationBat-Chen Tamim-Yecheskel, Milana Fraiberg, Kamilya Kokabi, et al.
Molecular Therapy. Nucleic Acids|February 3, 2025
Personalized allele-specific antisense oligonucleotides for GNAO1-neurodevelopmental disorderInna Shomer, Nofar Mor, Shaul Raviv, et al.
Nature Metabolism|August 31, 2023
A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levelsDebdeep Dutta, Oguz Kanca, Seul Kee Byeon, et al.
International Journal of Molecular Sciences|July 12, 2025
A Novel Pathogenic Variant Identified in HIKESHI-Related Hypomyelinating Leukodystrophy Disrupts Heat Shock Response in iPSCsMahmood Ali Saleh, Maria Boichuck, Aner Ottolenghi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|November 7, 2015
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disabilityGali Heimer, Danit Oz-Levi, Eran Eyal, 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.
Orphanet Journal of Rare Diseases|March 19, 2025
Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndromeOdelia Chorin, Lior Greenbaum, Shelly Lev-Hochberg, et al.
American Journal of Human Genetics|February 1, 2020
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding AbnormalitiesMatias Wagner, Yuliya Skorobogatko, Ben Pode-Shakked, et al.
Molecular Genetics and Metabolism|August 26, 2019
Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutationBen Pode-Shakked, Gali Heimer, Thierry Vilboux, et al.
Pageof 6