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Hagit Baris

Showing results (21-30 of 96) with videos related to

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Familial Cancer|May 17, 2021
A recurrent pathogenic BRCA2 exon 5-11 duplication in the Christian Arab population in IsraelGili Reznick Levi, Gal Larom, Vered Ofen Glassner, et al.
European Journal of Human Genetics : EJHG|June 21, 2012
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disordersHamid Saranjam, Sameer S Chopra, Harvey Levy, et al.
American Journal of Medical Genetics. Part A|November 8, 2019
A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literatureLena Sagi-Dain, Alina Kurolap, Anat Ilivitzki, et al.
American Journal of Medical Genetics. Part A|June 19, 2021
A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactylyIrena Kessel, Alina German, Amir Peleg, et al.
Journal of Clinical Immunology|November 20, 2020
Eculizumab-Responsive Adult Onset Protein Losing Enteropathy, Caused by Germline CD55-Deficiency and Complicated by Aggressive AngiosarcomaDavid Hagin, Dror Lahav, Tal Freund, et al.
Molecular Genetics and Metabolism|September 30, 2023
A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescueAlina Kurolap, Dalit Barel, Nava Shaul Lotan, et al.
Platelets|February 12, 2026
Autosomal dominant thrombocytopenia associated with the CYCS p.Arg92Gly variant: clinical characterization of an additional family and observation of antiplatelet toleranceEmad Muhammad, Eveline Shabbad, Alina Kurolap, et al.
American Journal of Obstetrics & Gynecology MFM|December 5, 2025
Incremental yield of exome sequencing in fetuses with truly isolated fetal growth restriction: diagnostic insights and clinical impactVered Offen Glasner, Adi Botvinik, Adi Mory, et al.
Pediatrics|September 6, 2005
Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literatureWen-Hann Tan, Florian S Eichler, Sadaf Hoda, et al.
Journal of Neurology|April 16, 2024
Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosisDalit Barel, Daphna Marom, Penina Ponger, et al.
Pageof 10

Showing results (21-30 of 96) with videos related to

Sort By:
Pageof 10
Familial Cancer|May 17, 2021
A recurrent pathogenic BRCA2 exon 5-11 duplication in the Christian Arab population in IsraelGili Reznick Levi, Gal Larom, Vered Ofen Glassner, et al.
European Journal of Human Genetics : EJHG|June 21, 2012
A germline or de novo mutation in two families with Gaucher disease: implications for recessive disordersHamid Saranjam, Sameer S Chopra, Harvey Levy, et al.
American Journal of Medical Genetics. Part A|November 8, 2019
A novel heterozygous loss-of-function DCC Netrin 1 receptor variant in prenatal agenesis of corpus callosum and review of the literatureLena Sagi-Dain, Alina Kurolap, Anat Ilivitzki, et al.
American Journal of Medical Genetics. Part A|June 19, 2021
A novel truncating variant in the FGD1 gene associated with Aarskog-Scott syndrome in a family previously diagnosed with Tel Hashomer camptodactylyIrena Kessel, Alina German, Amir Peleg, et al.
Journal of Clinical Immunology|November 20, 2020
Eculizumab-Responsive Adult Onset Protein Losing Enteropathy, Caused by Germline CD55-Deficiency and Complicated by Aggressive AngiosarcomaDavid Hagin, Dror Lahav, Tal Freund, et al.
Molecular Genetics and Metabolism|September 30, 2023
A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescueAlina Kurolap, Dalit Barel, Nava Shaul Lotan, et al.
Platelets|February 12, 2026
Autosomal dominant thrombocytopenia associated with the CYCS p.Arg92Gly variant: clinical characterization of an additional family and observation of antiplatelet toleranceEmad Muhammad, Eveline Shabbad, Alina Kurolap, et al.
American Journal of Obstetrics & Gynecology MFM|December 5, 2025
Incremental yield of exome sequencing in fetuses with truly isolated fetal growth restriction: diagnostic insights and clinical impactVered Offen Glasner, Adi Botvinik, Adi Mory, et al.
Pediatrics|September 6, 2005
Isolated sulfite oxidase deficiency: a case report with a novel mutation and review of the literatureWen-Hann Tan, Florian S Eichler, Sadaf Hoda, et al.
Journal of Neurology|April 16, 2024
Genetic diagnosis and detection rates using C9orf72 repeat expansion and a multi-gene panel in amyotrophic lateral sclerosisDalit Barel, Daphna Marom, Penina Ponger, et al.
Pageof 10