Showing results (1-10 of 10) with videos related to
Sort By:
Pageof 1
Fetal and Pediatric Pathology|October 17, 2015
Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 GeneArik Eisenkraft, Ben Pode-Shakked, Nurit Goldstein, et al.Molecular Genetics and Metabolism|November 10, 2010
The GALT rush: high carrier frequency of an unusual deletion mutation of the GALT gene in the Ashkenazi populationNurit Goldstein, Yoram Cohen, Ben Pode-Shakked, et al.Pediatric Research|March 22, 2008
Schimke immuno-osseous dysplasia: expression of SMARCAL1 in blood and kidney provides novel insight into disease phenotypeBenjamin Dekel, Sally Metsuyanim, Nurit Goldstein, et al.Ophthalmic Genetics|October 27, 2009
Lack of association between the C2 allele of transferrin and age-related macular degeneration in the Israeli populationSaleh Abu Asleh, Michal Lederman, Orly Weinstein, et al.Clinical Endocrinology|June 11, 2009
Clinical and genetic heterogeneity of congenital adrenal hypoplasia due to NR0B1 gene mutationsZohar Landau, Aaron Hanukoglu, Joseph Sack, et al.Journal of Human Genetics|February 27, 2008
Genotype-phenotype correlations analysis of mutations in the phenylalanine hydroxylase (PAH) geneDani Bercovich, Arava Elimelech, Joel Zlotogora, et al.NPJ Digital Medicine|March 29, 2025
Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screeningYuval Yaron, Vered Ofen Glassner, Michal Berkenstadt, et al.Frontiers in Genetics|August 21, 2019
Evaluation of Diagnostic Yield in Fetal Whole-Exome Sequencing: A Report on 45 Consecutive FamiliesLior Greenbaum, Ben Pode-Shakked, Shlomit Eisenberg-Barzilai, et al.Human Genetics|July 25, 2012
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemiaIfat Bar-joseph, Elon Pras, Haike Reznik-Wolf, et al.Journal of Medical Genetics|May 8, 2024
Expanded targeted preconception screening panel in Israel: findings and insightsAdi Reches, Vered Ofen Glassner, Nurit Goldstein, et al.Pageof 1