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Miriam Regev

Showing results (1-10 of 16) with videos related to

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The Israel Medical Association Journal : IMAJ|May 28, 2016
Fishing for Genes in AutoimmunityMiriam Regev, Elon Pras
American Journal of Medical Genetics. Part A|August 9, 2008
Vertical transmission of a mutation in exon 1 of the WT1 gene: lessons for genetic counselingMiriam Regev, Richard Kirk, Maya Mashevich, et al.
American Journal of Medical Genetics. Part A|July 17, 2009
A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generationsOrit Reish, Tod Fullston, Miriam Regev, et al.
Cell Adhesion & Migration|September 3, 2016
Involvement of Rho GAP GRAF1 in maintenance of epithelial phenotypeMiriam Regev, Helena Sabanay, Elena Kartvelishvily, et al.
European Journal of Medical Genetics|April 27, 2018
Phenotype variability in Hajdu-Cheney syndromeMiriam Regev, Ben Pode-Shakked, Jeffrey M Jacobson, et al.
Case Reports in Ophthalmology|May 31, 2021
Orbital Lymphatic-Venous Malformation Accompanied by an Intraocular Vascular Malformation: A Rare Case StudyKarny Shouchane-Blum, Iftach Yassur, Amir Sternfeld, et al.
Human Molecular Genetics|August 13, 2013
Congenital myopathy is caused by mutation of HACD1Emad Muhammad, Orit Reish, Yusuke Ohno, et al.
Gene|June 24, 2024
A novel RYR1 pathogenic variant - Common among Libyan Jews and associated with a broad phenotypic spectrumMiriam Regev, Amir Dori, Gheona Altarescu, et al.
American Journal of Medical Genetics. Part A|February 12, 2009
The clinical spectrum of fetal Niemann-Pick type CRonen Spiegel, Annick Raas-Rothschild, Orit Reish, et al.
European Journal of Human Genetics : EJHG|February 17, 2026
A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorderAmos J Simon, Monica Neustadter-Blackman, Atar Lev, et al.
Pageof 2

Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
The Israel Medical Association Journal : IMAJ|May 28, 2016
Fishing for Genes in AutoimmunityMiriam Regev, Elon Pras
American Journal of Medical Genetics. Part A|August 9, 2008
Vertical transmission of a mutation in exon 1 of the WT1 gene: lessons for genetic counselingMiriam Regev, Richard Kirk, Maya Mashevich, et al.
American Journal of Medical Genetics. Part A|July 17, 2009
A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generationsOrit Reish, Tod Fullston, Miriam Regev, et al.
Cell Adhesion & Migration|September 3, 2016
Involvement of Rho GAP GRAF1 in maintenance of epithelial phenotypeMiriam Regev, Helena Sabanay, Elena Kartvelishvily, et al.
European Journal of Medical Genetics|April 27, 2018
Phenotype variability in Hajdu-Cheney syndromeMiriam Regev, Ben Pode-Shakked, Jeffrey M Jacobson, et al.
Case Reports in Ophthalmology|May 31, 2021
Orbital Lymphatic-Venous Malformation Accompanied by an Intraocular Vascular Malformation: A Rare Case StudyKarny Shouchane-Blum, Iftach Yassur, Amir Sternfeld, et al.
Human Molecular Genetics|August 13, 2013
Congenital myopathy is caused by mutation of HACD1Emad Muhammad, Orit Reish, Yusuke Ohno, et al.
Gene|June 24, 2024
A novel RYR1 pathogenic variant - Common among Libyan Jews and associated with a broad phenotypic spectrumMiriam Regev, Amir Dori, Gheona Altarescu, et al.
American Journal of Medical Genetics. Part A|February 12, 2009
The clinical spectrum of fetal Niemann-Pick type CRonen Spiegel, Annick Raas-Rothschild, Orit Reish, et al.
European Journal of Human Genetics : EJHG|February 17, 2026
A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorderAmos J Simon, Monica Neustadter-Blackman, Atar Lev, et al.
Pageof 2