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Ortal Barel

Showing results (11-20 of 97) with videos related to

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BMC Genomics|August 28, 2016
G23D: Online tool for mapping and visualization of genomic variants on 3D protein structuresOz Solomon, Vered Kunik, Amos Simon, et al.
Muscle & Nerve|December 15, 2019
Identification of a homozygous VRK1 mutation in two patients with adult-onset distal hereditary motor neuropathyLior Greenbaum, Ortal Barel, Vera Nikitin, et al.
Frontiers in Pediatrics|August 15, 2022
Novel <i>NHEJ1</i> pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoiresShirly Frizinsky, Erez Rechavi, Ortal Barel, et al.
The British Journal of Dermatology|July 15, 2025
Genetic, immunological and clinical assessment of isolated chronic recalcitrant dermatophytosis: A prospective studyEran Galili, Aviv Barzilai, Atar Lev, et al.
Clinical and Experimental Immunology|October 3, 2024
Investigating Concomitant RAG-2 and LRBA Mutations in SCID and AutoimmunityIlia Spivak, Shirly Frizinsky, Amarilla Mandola, et al.
European Journal of Pediatrics|February 4, 2022
Genetic workup as a complementary tool for the diagnosis of primary complement component deficiencies: a multicenter experienceOded Shamriz, Amos J Simon, Shirley Frizinsky, et al.
Molecular Genetics and Metabolism|September 30, 2023
A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescueAlina Kurolap, Dalit Barel, Nava Shaul Lotan, et al.
American Journal of Human Genetics|April 29, 2008
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQOrtal Barel, Zamir Shorer, Hagit Flusser, et al.
Journal of Pediatric Hematology/Oncology|June 27, 2024
Atypical Presentations of Pediatric-acquired Thrombotic Thrombocytopenic PurpuraAmit Ziv, Rima Dardik, Joanne Yacobovich, et al.
International Journal of Molecular Sciences|August 27, 2021
Molecular Mechanisms of Skewed X-Chromosome Inactivation in Female Hemophilia Patients-Lessons from Wide Genome AnalysesRima Dardik, Einat Avishai, Shadan Lalezari, et al.
Pageof 10

Showing results (11-20 of 97) with videos related to

Sort By:
Pageof 10
BMC Genomics|August 28, 2016
G23D: Online tool for mapping and visualization of genomic variants on 3D protein structuresOz Solomon, Vered Kunik, Amos Simon, et al.
Muscle & Nerve|December 15, 2019
Identification of a homozygous VRK1 mutation in two patients with adult-onset distal hereditary motor neuropathyLior Greenbaum, Ortal Barel, Vera Nikitin, et al.
Frontiers in Pediatrics|August 15, 2022
Novel <i>NHEJ1</i> pathogenic variant linked to severe combined immunodeficiency, microcephaly, and abnormal T and B cell receptor repertoiresShirly Frizinsky, Erez Rechavi, Ortal Barel, et al.
The British Journal of Dermatology|July 15, 2025
Genetic, immunological and clinical assessment of isolated chronic recalcitrant dermatophytosis: A prospective studyEran Galili, Aviv Barzilai, Atar Lev, et al.
Clinical and Experimental Immunology|October 3, 2024
Investigating Concomitant RAG-2 and LRBA Mutations in SCID and AutoimmunityIlia Spivak, Shirly Frizinsky, Amarilla Mandola, et al.
European Journal of Pediatrics|February 4, 2022
Genetic workup as a complementary tool for the diagnosis of primary complement component deficiencies: a multicenter experienceOded Shamriz, Amos J Simon, Shirley Frizinsky, et al.
Molecular Genetics and Metabolism|September 30, 2023
A common benign intronic deletion masking a pathogenic deep intronic PCCB variant - genome sequencing and RNA studies to the rescueAlina Kurolap, Dalit Barel, Nava Shaul Lotan, et al.
American Journal of Human Genetics|April 29, 2008
Mitochondrial complex III deficiency associated with a homozygous mutation in UQCRQOrtal Barel, Zamir Shorer, Hagit Flusser, et al.
Journal of Pediatric Hematology/Oncology|June 27, 2024
Atypical Presentations of Pediatric-acquired Thrombotic Thrombocytopenic PurpuraAmit Ziv, Rima Dardik, Joanne Yacobovich, et al.
International Journal of Molecular Sciences|August 27, 2021
Molecular Mechanisms of Skewed X-Chromosome Inactivation in Female Hemophilia Patients-Lessons from Wide Genome AnalysesRima Dardik, Einat Avishai, Shadan Lalezari, et al.
Pageof 10