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Dina Marek-Yagel

Showing results (1-10 of 41) with videos related to

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The Journal of Rheumatology|October 13, 2009
Is E148Q a benign polymorphism or a disease-causing mutation?Dina Marek-Yagel, Ifat Bar-Joseph, Elon Pras, et al.
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.
Database : the Journal of Biological Databases and Curation|July 23, 2024
PANGEN: an online platform for the comparison and creation of diagnostic gene panelsOfer Isakov, Dina Marek-Yagel, Rotem Greenberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2026
Incorporation of Clinical and Molecular Variant Properties Improves the Performance of in silico Pathogenicity Prediction ToolsOfer Isakov, Reut Fluss, Dina Marek-Yagel, et al.
Arthritis and Rheumatism|May 30, 2009
Clinical disease among patients heterozygous for familial Mediterranean feverDina Marek-Yagel, Yackov Berkun, Shai Padeh, et al.
Molecular Genetics and Metabolism Reports|November 30, 2016
Glutaric Aciduria type I and acute renal failure - Coincidence or causality?Ben Pode-Shakked, Dina Marek-Yagel, Marina Rubinshtein, 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.
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.
Arthritis Care & Research|May 28, 2010
Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean feverDina Marek-Yagel, Yackov Berkun, Shai Padeh, et al.
Clinical Genetics|October 19, 2024
Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic EventsGali Heimer, Ben Pode-Shakked, Dina Marek-Yagel, et al.
Pageof 5

Showing results (1-10 of 41) with videos related to

Sort By:
Pageof 5
The Journal of Rheumatology|October 13, 2009
Is E148Q a benign polymorphism or a disease-causing mutation?Dina Marek-Yagel, Ifat Bar-Joseph, Elon Pras, et al.
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.
Database : the Journal of Biological Databases and Curation|July 23, 2024
PANGEN: an online platform for the comparison and creation of diagnostic gene panelsOfer Isakov, Dina Marek-Yagel, Rotem Greenberg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 29, 2026
Incorporation of Clinical and Molecular Variant Properties Improves the Performance of in silico Pathogenicity Prediction ToolsOfer Isakov, Reut Fluss, Dina Marek-Yagel, et al.
Arthritis and Rheumatism|May 30, 2009
Clinical disease among patients heterozygous for familial Mediterranean feverDina Marek-Yagel, Yackov Berkun, Shai Padeh, et al.
Molecular Genetics and Metabolism Reports|November 30, 2016
Glutaric Aciduria type I and acute renal failure - Coincidence or causality?Ben Pode-Shakked, Dina Marek-Yagel, Marina Rubinshtein, 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.
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.
Arthritis Care & Research|May 28, 2010
Role of the R92Q TNFRSF1A mutation in patients with familial Mediterranean feverDina Marek-Yagel, Yackov Berkun, Shai Padeh, et al.
Clinical Genetics|October 19, 2024
Biallelic PIGM Coding Variant Causes Intractable Epilepsy and Intellectual Disability Without Thrombotic EventsGali Heimer, Ben Pode-Shakked, Dina Marek-Yagel, et al.
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