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Elon Pras

Showing results (61-70 of 103) with videos related to

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Arthritis & Rheumatology (Hoboken, N.J.)|November 19, 2016
Anakinra for Colchicine-Resistant Familial Mediterranean Fever: A Randomized, Double-Blind, Placebo-Controlled TrialIlan Ben-Zvi, Olga Kukuy, Eitan Giat, 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.
Journal of Assisted Reproduction and Genetics|September 28, 2010
Preimplantation genetic haplotyping a new application for diagnosis of translocation carrier's embryos- preliminary observations of two robertsonian translocation carrier familiesJana Shamash, Shlomit Rienstein, Haike Wolf-Reznik, 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.
Human Genetics|August 22, 2002
Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan JewsBruria Ben-Zeev, Etgar Levy-Nissenbaum, Hadas Lahat, et al.
American Journal of Human Genetics|June 4, 2011
Mutations in FYCO1 cause autosomal-recessive congenital cataractsJianjun Chen, Zhiwei Ma, Xiaodong Jiao, et al.
Neurogenetics|September 1, 2023
Adult-onset Alexander disease among patients of Jewish Syrian descentSaar Anis, Tsvia Fay-Karmon, Simon Lassman, et al.
Annals of Clinical and Translational Neurology|May 11, 2021
Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian populationLior Greenbaum, Merav Ben-David, Vera Nikitin, et al.
Frontiers in Genetics|January 9, 2019
Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation CarriersNoam Domniz, Liat Ries-Levavi, Yoram Cohen, et al.
Prenatal Diagnosis|February 28, 2012
Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathyHagith Yonath, Haike Reznik-Wolf, Michal Berkenstadt, et al.
Pageof 11

Showing results (61-70 of 103) with videos related to

Sort By:
Pageof 11
Arthritis & Rheumatology (Hoboken, N.J.)|November 19, 2016
Anakinra for Colchicine-Resistant Familial Mediterranean Fever: A Randomized, Double-Blind, Placebo-Controlled TrialIlan Ben-Zvi, Olga Kukuy, Eitan Giat, 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.
Journal of Assisted Reproduction and Genetics|September 28, 2010
Preimplantation genetic haplotyping a new application for diagnosis of translocation carrier's embryos- preliminary observations of two robertsonian translocation carrier familiesJana Shamash, Shlomit Rienstein, Haike Wolf-Reznik, 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.
Human Genetics|August 22, 2002
Megalencephalic leukoencephalopathy with subcortical cysts; a founder effect in Israeli patients and a higher than expected carrier rate among Libyan JewsBruria Ben-Zeev, Etgar Levy-Nissenbaum, Hadas Lahat, et al.
American Journal of Human Genetics|June 4, 2011
Mutations in FYCO1 cause autosomal-recessive congenital cataractsJianjun Chen, Zhiwei Ma, Xiaodong Jiao, et al.
Neurogenetics|September 1, 2023
Adult-onset Alexander disease among patients of Jewish Syrian descentSaar Anis, Tsvia Fay-Karmon, Simon Lassman, et al.
Annals of Clinical and Translational Neurology|May 11, 2021
Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian populationLior Greenbaum, Merav Ben-David, Vera Nikitin, et al.
Frontiers in Genetics|January 9, 2019
Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation CarriersNoam Domniz, Liat Ries-Levavi, Yoram Cohen, et al.
Prenatal Diagnosis|February 28, 2012
Carrier state for the nebulin exon 55 deletion and abnormal prenatal ultrasound findings as potential signs of nemaline myopathyHagith Yonath, Haike Reznik-Wolf, Michal Berkenstadt, et al.
Pageof 11