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Vadim Dolgin

Showing results (1-10 of 27) with videos related to

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Harefuah|December 27, 2021
[RENAL TUBULAR DYSGENESIS SECONDARY TO MUTATIONS IN GENES ENCODING THE RENIN-ANGIOTENSIN SYSTEM]Ruth Schreiber, Vadim Dolgin, Daniel Landau, et al.
Molecular Therapy. Nucleic Acids|May 29, 2026
FACS-based dual fluorescence reporter assay demonstrates efficacy of antisense oligonucleotide therapy of novel <i>PRPF3</i> intronic splice variantVadim Dolgin, Ekaterina Eremenko, Ginat Narkis, et al.
Genes|May 27, 2026
A Novel Variant in an Israeli Bedouin Family: The First Reported Cases of Carbonic Anhydrase VA (CA5A) Deficiency in IsraelNitzan Abelson, Eyal Kristal, Eli Hershkovitz, et al.
Neurogenetics|June 4, 2020
Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case reportDaniel Halperin, Aviad Sapir, Ohad Wormser, et al.
The Canadian Journal of Cardiology|January 29, 2025
Mitral Valve Prolapse Caused by TLL1 Gain-of-Function MutationNadav Agam, Vadim Dolgin, Artyom Star, et al.
Journal of Medical Genetics|July 25, 2024
Developmental dysplasia of the hip caused by homozygous <i>TRIM33</i> pathogenic variant affecting downstream BMP pathwayMaya Gombosh, Regina Proskorovski-Ohayon, Yuval Yogev, et al.
American Journal of Medical Genetics. Part A|April 2, 2020
Phenotypic variability and mutation hotspot in COX15-related Leigh syndromeDaniel Halperin, Max Drabkin, Ohad Wormser, et al.
Annals of Human Genetics|April 13, 2019
A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type IDaniel Halperin, Vadim Dolgin, Michael Geylis, et al.
European Journal of Human Genetics : EJHG|June 13, 2019
DEGS1 variant causes neurological disorderVadim Dolgin, Rachel Straussberg, Ruijuan Xu, et al.
Clinical Genetics|July 4, 2020
Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathyOdeya David, Marina Eskin-Schwartz, Galina Ling, et al.
Pageof 3

Showing results (1-10 of 27) with videos related to

Sort By:
Pageof 3
Harefuah|December 27, 2021
[RENAL TUBULAR DYSGENESIS SECONDARY TO MUTATIONS IN GENES ENCODING THE RENIN-ANGIOTENSIN SYSTEM]Ruth Schreiber, Vadim Dolgin, Daniel Landau, et al.
Molecular Therapy. Nucleic Acids|May 29, 2026
FACS-based dual fluorescence reporter assay demonstrates efficacy of antisense oligonucleotide therapy of novel <i>PRPF3</i> intronic splice variantVadim Dolgin, Ekaterina Eremenko, Ginat Narkis, et al.
Genes|May 27, 2026
A Novel Variant in an Israeli Bedouin Family: The First Reported Cases of Carbonic Anhydrase VA (CA5A) Deficiency in IsraelNitzan Abelson, Eyal Kristal, Eli Hershkovitz, et al.
Neurogenetics|June 4, 2020
Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case reportDaniel Halperin, Aviad Sapir, Ohad Wormser, et al.
The Canadian Journal of Cardiology|January 29, 2025
Mitral Valve Prolapse Caused by TLL1 Gain-of-Function MutationNadav Agam, Vadim Dolgin, Artyom Star, et al.
Journal of Medical Genetics|July 25, 2024
Developmental dysplasia of the hip caused by homozygous <i>TRIM33</i> pathogenic variant affecting downstream BMP pathwayMaya Gombosh, Regina Proskorovski-Ohayon, Yuval Yogev, et al.
American Journal of Medical Genetics. Part A|April 2, 2020
Phenotypic variability and mutation hotspot in COX15-related Leigh syndromeDaniel Halperin, Max Drabkin, Ohad Wormser, et al.
Annals of Human Genetics|April 13, 2019
A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type IDaniel Halperin, Vadim Dolgin, Michael Geylis, et al.
European Journal of Human Genetics : EJHG|June 13, 2019
DEGS1 variant causes neurological disorderVadim Dolgin, Rachel Straussberg, Ruijuan Xu, et al.
Clinical Genetics|July 4, 2020
Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathyOdeya David, Marina Eskin-Schwartz, Galina Ling, et al.
Pageof 3