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Shay Ben-Shachar

Showing results (11-20 of 96) with videos related to

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The Journal of Molecular Diagnostics : JMD|April 17, 2026
Evaluating the Impact of ClinGen Variant Curation Expert Panel Criteria Specifications on Variant Interpretation Across Multiple GenesDina Marek-Yagel, Rotem Greenberg, Michal Naftali, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2011
Large-scale population screening for spinal muscular atrophy: clinical implicationsShay Ben-Shachar, Avi Orr-Urtreger, Eyal Bardugo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2015
The time-consuming demands of the practice of medical genetics in the era of advanced genomic testingRivka Sukenik-Halevy, Mark David Ludman, Shay Ben-Shachar, et al.
Pediatric Research|February 19, 2025
Community-oriented, hospital level genetics: a new approach to improve access for underserved communitiesYoel Gofin, Fadel Tibi, Eliana Fanous, et al.
Prenatal Diagnosis|October 5, 2012
Undetected sex chromosome aneuploidy by chromosomal microarrayKeren Markus-Bustani, Yuval Yaron, Myriam Goldstein, et al.
Human Molecular Genetics|April 17, 2009
Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamusShay Ben-Shachar, Maria Chahrour, Christina Thaller, et al.
Pediatric Nephrology (Berlin, Germany)|August 29, 2015
High prevalence of elevated blood pressure among children with neurofibromatosis type 1Tom Dubov, Hagit Toledano-Alhadef, Gil Chernin, et al.
The Journal of Craniofacial Surgery|December 4, 2014
Frontosphenoid synostosis: an unusual cause of anterior plagiocephalyGyang Bot, David Leshem, Shelly I Shiran, et al.
European Journal of Human Genetics : EJHG|October 19, 2022
A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataractsDaphna Mezad-Koursh, Eldar Rosenfeld, Anat Bachar Zipori, et al.
Neurogenetics|August 17, 2019
VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesisMoran Hausman-Kedem, Shay Ben-Shachar, Shay Menascu, et al.
Pageof 10

Showing results (11-20 of 96) with videos related to

Sort By:
Pageof 10
The Journal of Molecular Diagnostics : JMD|April 17, 2026
Evaluating the Impact of ClinGen Variant Curation Expert Panel Criteria Specifications on Variant Interpretation Across Multiple GenesDina Marek-Yagel, Rotem Greenberg, Michal Naftali, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 15, 2011
Large-scale population screening for spinal muscular atrophy: clinical implicationsShay Ben-Shachar, Avi Orr-Urtreger, Eyal Bardugo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 17, 2015
The time-consuming demands of the practice of medical genetics in the era of advanced genomic testingRivka Sukenik-Halevy, Mark David Ludman, Shay Ben-Shachar, et al.
Pediatric Research|February 19, 2025
Community-oriented, hospital level genetics: a new approach to improve access for underserved communitiesYoel Gofin, Fadel Tibi, Eliana Fanous, et al.
Prenatal Diagnosis|October 5, 2012
Undetected sex chromosome aneuploidy by chromosomal microarrayKeren Markus-Bustani, Yuval Yaron, Myriam Goldstein, et al.
Human Molecular Genetics|April 17, 2009
Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamusShay Ben-Shachar, Maria Chahrour, Christina Thaller, et al.
Pediatric Nephrology (Berlin, Germany)|August 29, 2015
High prevalence of elevated blood pressure among children with neurofibromatosis type 1Tom Dubov, Hagit Toledano-Alhadef, Gil Chernin, et al.
The Journal of Craniofacial Surgery|December 4, 2014
Frontosphenoid synostosis: an unusual cause of anterior plagiocephalyGyang Bot, David Leshem, Shelly I Shiran, et al.
European Journal of Human Genetics : EJHG|October 19, 2022
A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataractsDaphna Mezad-Koursh, Eldar Rosenfeld, Anat Bachar Zipori, et al.
Neurogenetics|August 17, 2019
VPS53 gene is associated with a new phenotype of complicated hereditary spastic paraparesisMoran Hausman-Kedem, Shay Ben-Shachar, Shay Menascu, et al.
Pageof 10