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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.Pediatric Pulmonology|January 30, 2013
Duplication in CHIT1 gene and the risk for Aspergillus lung disease in CF patientsGalit Livnat, Ronen Bar-Yoseph, Adi Mory, et al.Journal of Clinical Immunology|January 26, 2010
Leukocyte adhesion deficiency type II: long-term follow-up and review of the literatureYael Gazit, Adi Mory, Amos Etzioni, et al.International Journal of Molecular Sciences|August 23, 2020
In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic VariantMichal Cohen, Emanuele Pignatti, Monica Dines, et al.Journal of Genetics|May 19, 2025
Deletion of RAI1 noncoding exons 1-2 causes Smith-Magenis syndromeUri Hamiel, Alina Kurolap, Chofit Chai Gadot, et al.Prenatal Diagnosis|October 5, 2024
Prenatal Diagnosis of a KIDINS220 De Novo Heterozygous Variant in a Fetus With a Complex CNS AnomalyHadas Miremberg, Roee Birnbaum, Dorin Trigubov, 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.European Journal of Human Genetics : EJHG|July 25, 2013
A missense mutation in ALDH1A3 causes isolated microphthalmia/anophthalmia in nine individuals from an inbred Muslim kindredAdi Mory, Francesc X Ruiz, Efrat Dagan, et al.Pageof 5