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Karin Weiss

Showing results (21-30 of 59) with videos related to

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American Journal of Medical Genetics. Part A|January 23, 2026
Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart FailureTameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, et al.
Frontiers in Immunology|July 12, 2021
A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case ReportShirley Pollack, Israel Eisenstein, Adi Mory, et al.
Genetics in Medicine Open|December 13, 2024
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical managementYara Nakhleh Francis, Tova Hershkovitz, Nina Ekhilevitch, et al.
The Journal of Clinical Investigation|May 6, 2020
Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndromePazhanichamy Kalailingam, Kai Qi Wang, Xiu Ru Toh, et al.
Human Genomics|March 28, 2023
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panelsYaron Einhorn, Moshe Einhorn, Alina Kurolap, et al.
Orphanet Journal of Rare Diseases|April 24, 2025
Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenuesMor Angel, Yuval Kleinberg, Tanmoy Newaz, et al.
European Journal of Medical Genetics|March 30, 2019
Identification of a novel PCNT founder pathogenic variant in the Israeli Druze populationKarin Weiss, Nina Ekhilevitch, Lior Cohen, et al.
Pacing and Clinical Electrophysiology : PACE|February 20, 2024
Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardiaMiry Blich, Yaniv Zohar, Victoria Cohen-Kaplan, et al.
Congenital Anomalies|July 4, 2017
SIX3 deletions and incomplete penetrance in families affected by holoprosencephalyBethany Stokes, Seth I Berger, Beth A Hall, 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 59) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|January 23, 2026
Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart FailureTameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, et al.
Frontiers in Immunology|July 12, 2021
A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case ReportShirley Pollack, Israel Eisenstein, Adi Mory, et al.
Genetics in Medicine Open|December 13, 2024
Publicly funded exome sequencing for outpatients with neurodevelopmental disorders demonstrates a high rate of unexpected findings impacting medical managementYara Nakhleh Francis, Tova Hershkovitz, Nina Ekhilevitch, et al.
The Journal of Clinical Investigation|May 6, 2020
Deficiency of MFSD7c results in microcephaly-associated vasculopathy in Fowler syndromePazhanichamy Kalailingam, Kai Qi Wang, Xiu Ru Toh, et al.
Human Genomics|March 28, 2023
Community data-driven approach to identify pathogenic founder variants for pan-ethnic carrier screening panelsYaron Einhorn, Moshe Einhorn, Alina Kurolap, et al.
Orphanet Journal of Rare Diseases|April 24, 2025
Using chanarin-dorfman syndrome patient fibroblasts to explore disease mechanisms and new treatment avenuesMor Angel, Yuval Kleinberg, Tanmoy Newaz, et al.
European Journal of Medical Genetics|March 30, 2019
Identification of a novel PCNT founder pathogenic variant in the Israeli Druze populationKarin Weiss, Nina Ekhilevitch, Lior Cohen, et al.
Pacing and Clinical Electrophysiology : PACE|February 20, 2024
Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardiaMiry Blich, Yaniv Zohar, Victoria Cohen-Kaplan, et al.
Congenital Anomalies|July 4, 2017
SIX3 deletions and incomplete penetrance in families affected by holoprosencephalyBethany Stokes, Seth I Berger, Beth A Hall, 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