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Stavit Shalev

Showing results (21-30 of 53) with videos related to

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Clinical Genetics|July 3, 2020
An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genesMaria Isabel Alvarez-Mora, Anne-Laure Todeschini, Sandrine Caburet, et al.
Ebiomedicine|April 20, 2019
A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaksSandrine Caburet, Anne-Laure Todeschini, Cynthia Petrillo, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 2, 2018
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene <i>BRCA1</i>Aaron Seo, Orna Steinberg-Shemer, Sule Unal, et al.
Journal of Genetic Counseling|September 16, 2015
Patients' Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients' Sociodemographic Background and Counseling ExperienceRoy Gilbar, Stavit Shalev, Ronen Spiegel, et al.
Journal of Cutaneous Medicine and Surgery|March 15, 2021
An Update on the Cutaneous Manifestations of Darier DiseaseAlgit Yeshurun, Michael Ziv, Eran Cohen-Barak, et al.
American Journal of Human Genetics|March 13, 2012
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2Ronen Spiegel, Ophry Pines, Asaf Ta-Shma, et al.
The Israel Medical Association Journal : IMAJ|January 24, 2014
Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?Sergiu C Blumen, Anat Kesler, Ron Dabby, et al.
European Journal of Human Genetics : EJHG|August 9, 2007
Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked exampleSylvain Hanein, Isabelle Perrault, Sylvie Gerber, et al.
American Journal of Medical Genetics. Part A|January 21, 2016
Exploring the genetic basis of 3MC syndrome: Findings in 12 further familiesJill Urquhart, Rebecca Roberts, Deepthi de Silva, et al.
Journal of Medical Genetics|June 16, 2022
A homozygous variant in <i>CHMP3</i> is associated with complex hereditary spastic paraplegiaEran Cohen-Barak, Nada Danial-Farran, Elana Chervinsky, et al.
Pageof 6

Showing results (21-30 of 53) with videos related to

Sort By:
Pageof 6
Clinical Genetics|July 3, 2020
An exome-wide exploration of cases of primary ovarian insufficiency uncovers novel sequence variants and candidate genesMaria Isabel Alvarez-Mora, Anne-Laure Todeschini, Sandrine Caburet, et al.
Ebiomedicine|April 20, 2019
A truncating MEIOB mutation responsible for familial primary ovarian insufficiency abolishes its interaction with its partner SPATA22 and their recruitment to DNA double-strand breaksSandrine Caburet, Anne-Laure Todeschini, Cynthia Petrillo, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 2, 2018
Mechanism for survival of homozygous nonsense mutations in the tumor suppressor gene <i>BRCA1</i>Aaron Seo, Orna Steinberg-Shemer, Sule Unal, et al.
Journal of Genetic Counseling|September 16, 2015
Patients' Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients' Sociodemographic Background and Counseling ExperienceRoy Gilbar, Stavit Shalev, Ronen Spiegel, et al.
Journal of Cutaneous Medicine and Surgery|March 15, 2021
An Update on the Cutaneous Manifestations of Darier DiseaseAlgit Yeshurun, Michael Ziv, Eran Cohen-Barak, et al.
American Journal of Human Genetics|March 13, 2012
Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2Ronen Spiegel, Ophry Pines, Asaf Ta-Shma, et al.
The Israel Medical Association Journal : IMAJ|January 24, 2014
Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?Sergiu C Blumen, Anat Kesler, Ron Dabby, et al.
European Journal of Human Genetics : EJHG|August 9, 2007
Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked exampleSylvain Hanein, Isabelle Perrault, Sylvie Gerber, et al.
American Journal of Medical Genetics. Part A|January 21, 2016
Exploring the genetic basis of 3MC syndrome: Findings in 12 further familiesJill Urquhart, Rebecca Roberts, Deepthi de Silva, et al.
Journal of Medical Genetics|June 16, 2022
A homozygous variant in <i>CHMP3</i> is associated with complex hereditary spastic paraplegiaEran Cohen-Barak, Nada Danial-Farran, Elana Chervinsky, et al.
Pageof 6