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

Alina Kurolap

Showing results (1-10 of 54) with videos related to

Pageof 6
Sort By:
Rambam Maimonides Medical Journal|July 16, 2021
Non-immune Hemolysis in Gaucher Disease and Review of the LiteratureEliyakim Hershkop, Idan Bergman, Alina Kurolap, et al.
Genetic Testing and Molecular Biomarkers|June 11, 2014
"I do not want my baby to suffer as I did"; prenatal and preimplantation genetic diagnosis for BRCA1/2 mutations: a case report and genetic counseling considerationsEfrat Dagan, Ruth Gershoni-Baruch, Alina Kurolap, et al.
American Journal of Medical Genetics. Part A|February 1, 2024
PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndromeMichal Yacobi Bach, Sivan Reytan Miron, Alina Kurolap, et al.
Lymphatic Research and Biology|June 20, 2015
A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary LymphedemaSvetlana Melikhan-Revzin, Alina Kurolap, Efrat Dagan, et al.
Molecular Genetics and Metabolism|July 21, 2024
Patients with Gaucher disease display systemic elevation of ACE2, which is impacted by therapy status and genotypeAhmad Fokra, Hagit Baris Feldman, Alina Kurolap, et al.
Dementia and Geriatric Cognitive Disorders|July 25, 2016
LRRK2, GBA and SMPD1 Founder Mutations and Parkinson's Disease in Ashkenazi JewsEfrat Dagan, Ilana Schlesinger, Alina Kurolap, et al.
Journal of Genetics|May 19, 2025
Deletion of <i>RAI1</i> noncoding exons 1-2 causes Smith-Magenis syndromeUri Hamiel, Alina Kurolap, Chofit Chai Gadot, et al.
Rambam Maimonides Medical Journal|August 9, 2018
Rare Disease Diagnostics: A Single-center Experience and Lessons LearntKarin Weiss, Alina Kurolap, Tamar Paperna, et al.
Prenatal Diagnosis|August 28, 2023
SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetranceNoa Hourvitz, Alina Kurolap, Adi Mory, et al.
Prenatal Diagnosis|October 11, 2022
Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharingAlina Kurolap, Adi Mory, Sharon Simchoni, et al.
Pageof 6

Showing results (1-10 of 54) with videos related to

Sort By:
Pageof 6
Rambam Maimonides Medical Journal|July 16, 2021
Non-immune Hemolysis in Gaucher Disease and Review of the LiteratureEliyakim Hershkop, Idan Bergman, Alina Kurolap, et al.
Genetic Testing and Molecular Biomarkers|June 11, 2014
"I do not want my baby to suffer as I did"; prenatal and preimplantation genetic diagnosis for BRCA1/2 mutations: a case report and genetic counseling considerationsEfrat Dagan, Ruth Gershoni-Baruch, Alina Kurolap, et al.
American Journal of Medical Genetics. Part A|February 1, 2024
PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndromeMichal Yacobi Bach, Sivan Reytan Miron, Alina Kurolap, et al.
Lymphatic Research and Biology|June 20, 2015
A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary LymphedemaSvetlana Melikhan-Revzin, Alina Kurolap, Efrat Dagan, et al.
Molecular Genetics and Metabolism|July 21, 2024
Patients with Gaucher disease display systemic elevation of ACE2, which is impacted by therapy status and genotypeAhmad Fokra, Hagit Baris Feldman, Alina Kurolap, et al.
Dementia and Geriatric Cognitive Disorders|July 25, 2016
LRRK2, GBA and SMPD1 Founder Mutations and Parkinson's Disease in Ashkenazi JewsEfrat Dagan, Ilana Schlesinger, Alina Kurolap, et al.
Journal of Genetics|May 19, 2025
Deletion of <i>RAI1</i> noncoding exons 1-2 causes Smith-Magenis syndromeUri Hamiel, Alina Kurolap, Chofit Chai Gadot, et al.
Rambam Maimonides Medical Journal|August 9, 2018
Rare Disease Diagnostics: A Single-center Experience and Lessons LearntKarin Weiss, Alina Kurolap, Tamar Paperna, et al.
Prenatal Diagnosis|August 28, 2023
SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetranceNoa Hourvitz, Alina Kurolap, Adi Mory, et al.
Prenatal Diagnosis|October 11, 2022
Upgrading an intronic TMEM67 variant of unknown significance to likely pathogenic through RNA studies and community data sharingAlina Kurolap, Adi Mory, Sharon Simchoni, et al.
Pageof 6