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Elon Pras

Showing results (71-80 of 103) with videos related to

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Neurology. Genetics|March 25, 2021
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, et al.
Clinical and Experimental Rheumatology|November 18, 2017
A high and equal prevalence of the Q703K variant in NLRP3 patients with autoinflammatory symptoms and ethnically matched controlsMerav Lidar, Yael Brantz, Yael Shinar, et al.
European Journal of Haematology|June 30, 2018
SMYD1 is the underlying gene for the AnWj-negative blood group phenotypeVered Yahalom, Nir Pillar, Yingying Zhao, et al.
Genes|March 28, 2026
Broadening the Phenotypic Spectrum of <i>MAFB</i>-Related Disease: Renal, Auricular, Ocular, and Nervous System InvolvementAviva Eliyahu, Danit Atias-Varon, Ortal Barel, et al.
European Journal of Medical Genetics|March 11, 2020
Clues and challenges in the diagnosis of intermittent maple syrup urine diseaseNaomi Pode-Shakked, Stanley H Korman, Ben Pode-Shakked, et al.
Annals of Clinical and Translational Neurology|February 11, 2023
Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic featuresAmir Dori, Michael Arad, Yishay Wasserstrum, et al.
International Journal of Cardiology|June 14, 2020
Reduction in Filamin C transcript is associated with arrhythmogenic cardiomyopathy in Ashkenazi JewsShimrit Oz, Hagith Yonath, Leonid Visochyk, et al.
NPJ Digital Medicine|March 29, 2025
Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screeningYuval Yaron, Vered Ofen Glassner, Michal Berkenstadt, et al.
International Journal of Cardiology|December 10, 2013
Titin mutation in familial restrictive cardiomyopathyYael Peled, Michael Gramlich, Guy Yoskovitz, et al.
Frontiers in Genetics|August 21, 2019
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive FamiliesLior Greenbaum, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, et al.
Pageof 11

Showing results (71-80 of 103) with videos related to

Sort By:
Pageof 11
Neurology. Genetics|March 25, 2021
Mild Phenotype of Wolfram Syndrome Associated With a Common Pathogenic Variant Is Predicted by a Structural Model of WolframinAdi Wilf-Yarkoni, Oded Shor, Avi Fellner, et al.
Clinical and Experimental Rheumatology|November 18, 2017
A high and equal prevalence of the Q703K variant in NLRP3 patients with autoinflammatory symptoms and ethnically matched controlsMerav Lidar, Yael Brantz, Yael Shinar, et al.
European Journal of Haematology|June 30, 2018
SMYD1 is the underlying gene for the AnWj-negative blood group phenotypeVered Yahalom, Nir Pillar, Yingying Zhao, et al.
Genes|March 28, 2026
Broadening the Phenotypic Spectrum of <i>MAFB</i>-Related Disease: Renal, Auricular, Ocular, and Nervous System InvolvementAviva Eliyahu, Danit Atias-Varon, Ortal Barel, et al.
European Journal of Medical Genetics|March 11, 2020
Clues and challenges in the diagnosis of intermittent maple syrup urine diseaseNaomi Pode-Shakked, Stanley H Korman, Ben Pode-Shakked, et al.
Annals of Clinical and Translational Neurology|February 11, 2023
Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic featuresAmir Dori, Michael Arad, Yishay Wasserstrum, et al.
International Journal of Cardiology|June 14, 2020
Reduction in Filamin C transcript is associated with arrhythmogenic cardiomyopathy in Ashkenazi JewsShimrit Oz, Hagith Yonath, Leonid Visochyk, et al.
NPJ Digital Medicine|March 29, 2025
Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screeningYuval Yaron, Vered Ofen Glassner, Michal Berkenstadt, et al.
International Journal of Cardiology|December 10, 2013
Titin mutation in familial restrictive cardiomyopathyYael Peled, Michael Gramlich, Guy Yoskovitz, et al.
Frontiers in Genetics|August 21, 2019
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive FamiliesLior Greenbaum, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, et al.
Pageof 11