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Hagar Mor-Shaked

Showing results (31-40 of 52) with videos related to

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International Journal of Molecular Sciences|July 28, 2022
Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and AtaxiaGiorgia Dinoi, Michael Morin, Elena Conte, et al.
Prenatal Diagnosis|February 27, 2026
CUL3-Related Neurodevelopmental Disorder: Expanding the Prenatal PhenotypeYoel Gofin, Tania Dery, Tamar Tenne, et al.
Harefuah|July 2, 2023
[NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL]Nadra Nasser Samra, Ilham Morani, Hino Bayan, et al.
Frontiers in Immunology|January 23, 2026
NDUFS4, a mitochondrial complex I subunit, is essential for T-cell metabolic fitness and immune functionOded Shamriz, Zahala Bar-On, Omri Yosef, et al.
European Journal of Human Genetics : EJHG|September 7, 2022
Exome sequencing for structurally normal fetuses-yields and ethical issuesHagit Daum, Tamar Harel, Talya Millo, et al.
Brain Communications|September 13, 2021
Levodopa-responsive dystonia caused by biallelic <i>PRKN</i> exon inversion invisible to exome sequencingHagar Mor-Shaked, Emuna Paz-Ebstein, Adily Basal, et al.
International Journal of Molecular Sciences|February 26, 2022
A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock SystemShir Confino, Talya Dor, Adi Tovin, et al.
Neurobiology of Aging|July 17, 2021
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decayMarc Gotkine, Martina de Majo, Chun Hao Wong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 26, 2025
A founder variant in TBCB is associated with global developmental delay, autism spectrum and spastic paraparesisSharon Bratman Morag, Chen Itzkovich, Alina Kurolap, et al.
Journal of Medical Genetics|August 6, 2025
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identificationShlomit Ezer, Tal Sido, Jonathan Rips, et al.
Pageof 6

Showing results (31-40 of 52) with videos related to

Sort By:
Pageof 6
International Journal of Molecular Sciences|July 28, 2022
Clinical and Functional Study of a De Novo Variant in the PVP Motif of Kv1.1 Channel Associated with Epilepsy, Developmental Delay and AtaxiaGiorgia Dinoi, Michael Morin, Elena Conte, et al.
Prenatal Diagnosis|February 27, 2026
CUL3-Related Neurodevelopmental Disorder: Expanding the Prenatal PhenotypeYoel Gofin, Tania Dery, Tamar Tenne, et al.
Harefuah|July 2, 2023
[NEXT-GENERATION SEQUENCING PERFORMED IN PATIENTS RAISING THE SUSPICION OF AN INBORN ERROR OF METABOLISM UNCOVERED A HOMOZYGOUS VARIANT IN YARS1 ALLOWING A NOVEL THERAPEUTIC TRIAL]Nadra Nasser Samra, Ilham Morani, Hino Bayan, et al.
Frontiers in Immunology|January 23, 2026
NDUFS4, a mitochondrial complex I subunit, is essential for T-cell metabolic fitness and immune functionOded Shamriz, Zahala Bar-On, Omri Yosef, et al.
European Journal of Human Genetics : EJHG|September 7, 2022
Exome sequencing for structurally normal fetuses-yields and ethical issuesHagit Daum, Tamar Harel, Talya Millo, et al.
Brain Communications|September 13, 2021
Levodopa-responsive dystonia caused by biallelic <i>PRKN</i> exon inversion invisible to exome sequencingHagar Mor-Shaked, Emuna Paz-Ebstein, Adily Basal, et al.
International Journal of Molecular Sciences|February 26, 2022
A Zebrafish Model for a Rare Genetic Disease Reveals a Conserved Role for FBXL3 in the Circadian Clock SystemShir Confino, Talya Dor, Adi Tovin, et al.
Neurobiology of Aging|July 17, 2021
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decayMarc Gotkine, Martina de Majo, Chun Hao Wong, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 26, 2025
A founder variant in TBCB is associated with global developmental delay, autism spectrum and spastic paraparesisSharon Bratman Morag, Chen Itzkovich, Alina Kurolap, et al.
Journal of Medical Genetics|August 6, 2025
Exploring the unique characteristics of genes with dual autosomal dominant and recessive inheritance: mechanisms, phenotypes and candidate identificationShlomit Ezer, Tal Sido, Jonathan Rips, et al.
Pageof 6