Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

Ortal Barel

Showing results (1-10 of 97) with videos related to

Pageof 10
Sort By:
Journal of Clinical Research in Pediatric Endocrinology|January 15, 2021
<i>TRMT10A</i> Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic KidneysEve Stern, Asaf Vivante, Ortal Barel, et al.
Pediatric Dermatology|June 20, 2019
Neonatal osteoma cutis due to a mutation in GNASYael Levy-Shraga, Ortal Barel, Elisheva Javasky, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|November 8, 2018
Abdominal muscle weakness as a presenting symptom in GNE myopathyOrtal Barel, Elena Kogan, Menachem Sadeh, et al.
Immunogenetics|November 13, 2024
A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathyIlia Spivak, Atar Lev, Amos J Simon, et al.
The Application of Clinical Genetics|March 19, 2019
c.259A>C in the fibrinogen gene of alpha chain (<i>FGA</i>) is a fibrinogen with thrombotic phenotypeOphira Salomon, Ortal Barel, Eran Eyal, et al.
International Journal of Dermatology|June 5, 2025
A Case of Pediatric Atypical Pseudoxanthoma ElasticumSarit Gilboa, Ortal Barel, Elisheva Javasky, et al.
Immunologic Research|February 18, 2021
Exploring genetic defects in adults who were clinically diagnosed as severe combined immune deficiency during infancyIdo Somekh, Atar Lev, Ortal Barel, et al.
Genes and Immunity|September 14, 2020
Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3Lior Goldberg, Amos J Simon, Atar Lev, et al.
Blood Cells, Molecules & Diseases|March 12, 2021
Mutations in RASGRP2 gene identified in patients misdiagnosed as Glanzmann thrombasthenia patientsNurit Rosenberg, Rima Dardik, Hagit Hauschner, et al.
Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine|January 14, 2018
LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular FindingsMichal Berkenstadt, Ben Pode-Shakked, Ortal Barel, et al.
Pageof 10

Showing results (1-10 of 97) with videos related to

Sort By:
Pageof 10
Journal of Clinical Research in Pediatric Endocrinology|January 15, 2021
<i>TRMT10A</i> Mutation in a Child with Diabetes, Short Stature, Microcephaly and Hypoplastic KidneysEve Stern, Asaf Vivante, Ortal Barel, et al.
Pediatric Dermatology|June 20, 2019
Neonatal osteoma cutis due to a mutation in GNASYael Levy-Shraga, Ortal Barel, Elisheva Javasky, et al.
Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia|November 8, 2018
Abdominal muscle weakness as a presenting symptom in GNE myopathyOrtal Barel, Elena Kogan, Menachem Sadeh, et al.
Immunogenetics|November 13, 2024
A novel mutation in FNIP1 associated with a syndromic immunodeficiency and cardiomyopathyIlia Spivak, Atar Lev, Amos J Simon, et al.
The Application of Clinical Genetics|March 19, 2019
c.259A>C in the fibrinogen gene of alpha chain (<i>FGA</i>) is a fibrinogen with thrombotic phenotypeOphira Salomon, Ortal Barel, Eran Eyal, et al.
International Journal of Dermatology|June 5, 2025
A Case of Pediatric Atypical Pseudoxanthoma ElasticumSarit Gilboa, Ortal Barel, Elisheva Javasky, et al.
Immunologic Research|February 18, 2021
Exploring genetic defects in adults who were clinically diagnosed as severe combined immune deficiency during infancyIdo Somekh, Atar Lev, Ortal Barel, et al.
Genes and Immunity|September 14, 2020
Atypical immune phenotype in severe combined immunodeficiency patients with novel mutations in IL2RG and JAK3Lior Goldberg, Amos J Simon, Atar Lev, et al.
Blood Cells, Molecules & Diseases|March 12, 2021
Mutations in RASGRP2 gene identified in patients misdiagnosed as Glanzmann thrombasthenia patientsNurit Rosenberg, Rima Dardik, Hagit Hauschner, et al.
Journal of Ultrasound in Medicine : Official Journal of the American Institute of Ultrasound in Medicine|January 14, 2018
LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular FindingsMichal Berkenstadt, Ben Pode-Shakked, Ortal Barel, et al.
Pageof 10