Moshe Frydman

Ramat Gan, TA, Israel

Last Updated: 09/26/2026

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Found 17 publications

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.

Clinical profiling and medical management of Israeli individuals with Phelan McDermid syndrome.

Journal: Orphanet journal of rare diseases

Published: August 24, 2024

Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay.

Refining the Phenotypic Spectrum of KMT5B-Associated Developmental Delay.

Journal: Frontiers in pediatrics

Published: December 28, 2021

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Spectrum of genes for inherited hearing loss in the Israeli Jewish population, including the novel human deafness gene ATOH1.

Journal: Clinical genetics

Published: May 04, 2020

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: December 09, 2018

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Journal: Journal of clinical immunology

Published: April 30, 2016

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey.

Journal: Journal of clinical immunology

Published: December 15, 2015

Autosomal-dominant cutis laxa resulting from an intronic mutation in ELN.

Autosomal-dominant cutis laxa resulting from an intronic mutation in ELN.

Journal: Experimental dermatology

Published: June 04, 2015

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Journal: Human mutation

Published: March 20, 2015

Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness.

Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness.

Journal: Journal of basic and clinical physiology and pharmacology

Published: April 23, 2014

Late onset fulminant Wilson's disease: a case report and review of the literature.

Late onset fulminant Wilson's disease: a case report and review of the literature.

Journal: World journal of gastroenterology

Published: March 14, 2014

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies.

Journal: Human mutation

Published: September 13, 2013

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.

Novel myosin mutations for hereditary hearing loss revealed by targeted genomic capture and massively parallel sequencing.

Journal: European journal of human genetics : EJHG

Published: May 11, 2013

Showing 1-12 of 17

Last Updated: 09/26/2026