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Elon Pras

Showing results (41-50 of 103) with videos related to

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Molecular Genetics & Genomic Medicine|January 30, 2019
Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year periodOri Eyal, Michal Berkenstadt, Haike Reznik-Wolf, et al.
Muscle & Nerve|December 15, 2019
Identification of a homozygous VRK1 mutation in two patients with adult-onset distal hereditary motor neuropathyLior Greenbaum, Ortal Barel, Vera Nikitin, et al.
Journal of Applied Genetics|May 18, 2011
X inactivation testing for identifying a non-syndromic X-linked mental retardation geneHagith Yonath, Dina Marek-Yagel, Haike Resnik-Wolf, et al.
BMC Medical Genomics|May 14, 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencingMoran Gal, Khen Khermesh, Michal Barak, et al.
The Israel Medical Association Journal : IMAJ|August 22, 2003
Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean feverNurit Zaks, Yael Shinar, Shai Padeh, et al.
Molecular Vision|July 21, 2012
Fundus albipunctatus: novel mutations and phenotypic description of Israeli patientsEran Pras, Elon Pras, Haike Reznik-Wolf, et al.
American Journal of Human Genetics|March 28, 2002
A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish familyEran Pras, Etgar Levy-Nissenbaum, Tangiz Bakhan, et al.
Investigative Ophthalmology & Visual Science|November 24, 2006
Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24Almogit Abu, Moshe Frydman, Dina Marek, et al.
Cancer Genetics|January 19, 2016
The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriersYael Laitman, Lital Boker-Keinan, Michal Berkenstadt, et al.
European Journal of Medical Genetics|November 1, 2015
A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindredBen Pode-Shakked, Dina Marek-Yagel, Shoshana Greenberger, et al.
Pageof 11

Showing results (41-50 of 103) with videos related to

Sort By:
Pageof 11
Molecular Genetics & Genomic Medicine|January 30, 2019
Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year periodOri Eyal, Michal Berkenstadt, Haike Reznik-Wolf, et al.
Muscle & Nerve|December 15, 2019
Identification of a homozygous VRK1 mutation in two patients with adult-onset distal hereditary motor neuropathyLior Greenbaum, Ortal Barel, Vera Nikitin, et al.
Journal of Applied Genetics|May 18, 2011
X inactivation testing for identifying a non-syndromic X-linked mental retardation geneHagith Yonath, Dina Marek-Yagel, Haike Resnik-Wolf, et al.
BMC Medical Genomics|May 14, 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencingMoran Gal, Khen Khermesh, Michal Barak, et al.
The Israel Medical Association Journal : IMAJ|August 22, 2003
Analysis of the three most common MEFV mutations in 412 patients with familial Mediterranean feverNurit Zaks, Yael Shinar, Shai Padeh, et al.
Molecular Vision|July 21, 2012
Fundus albipunctatus: novel mutations and phenotypic description of Israeli patientsEran Pras, Elon Pras, Haike Reznik-Wolf, et al.
American Journal of Human Genetics|March 28, 2002
A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish familyEran Pras, Etgar Levy-Nissenbaum, Tangiz Bakhan, et al.
Investigative Ophthalmology & Visual Science|November 24, 2006
Mapping of a gene causing brittle cornea syndrome in Tunisian jews to 16q24Almogit Abu, Moshe Frydman, Dina Marek, et al.
Cancer Genetics|January 19, 2016
The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriersYael Laitman, Lital Boker-Keinan, Michal Berkenstadt, et al.
European Journal of Medical Genetics|November 1, 2015
A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindredBen Pode-Shakked, Dina Marek-Yagel, Shoshana Greenberger, et al.
Pageof 11