Ortal Barel

Tel Litwinsky, TA, Israel

Last Updated: 09/26/2026

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Found 108 publications

Compound Heterozygous Mutations in DCLRE1C Caused Leaky SCID Phenotype.

Compound Heterozygous Mutations in DCLRE1C Caused Leaky SCID Phenotype.

Journal: The Israel Medical Association journal : IMAJ

Published: August 06, 2026

Further Support for Association of DAND5 with Autosomal Recessive Laterality Disorders.

Further Support for Association of DAND5 with Autosomal Recessive Laterality Disorders.

Journal: Genes

Published: April 12, 2026

Broadening the Phenotypic Spectrum of MAFB-Related Disease: Renal, Auricular, Ocular, and Nervous System Involvement.

Broadening the Phenotypic Spectrum of MAFB-Related Disease: Renal, Auricular, Ocular, and Nervous System Involvement.

Journal: Genes

Published: December 11, 2025

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome.

Detection of the Heterozygous Recurrent MAX p.(Arg60Gln) Variant in Two Females Confirms and Expands the Phenotypic Spectrum of Polydactyly-Macrocephaly Syndrome.

Journal: Clinical genetics

Published: September 15, 2025

A Case of Pediatric Atypical Pseudoxanthoma Elasticum.

A Case of Pediatric Atypical Pseudoxanthoma Elasticum.

Journal: International journal of dermatology

Published: April 07, 2025

β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies.

β-Actin Deficiency in Baraitser-Winter Syndrome Type 1 Disrupts T-Cell Function and Immune Regulation: Implications for Targeted Therapy in Actinopathies.

Journal: Journal of clinical immunology

Published: March 26, 2025

RELA Haploinsufficiency Manifesting as an Atypical Phenotype of Crohn's Disease.

RELA Haploinsufficiency Manifesting as an Atypical Phenotype of Crohn's Disease.

Journal: Inflammatory bowel diseases

Published: March 08, 2025

Genetic, immunological and clinical assessment of isolated chronic recalcitrant dermatophytosis: a prospective study.

Genetic, immunological and clinical assessment of isolated chronic recalcitrant dermatophytosis: a prospective study.

Journal: The British journal of dermatology

Published: February 21, 2025

A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder.

A homozygote mutation in RPA2 associated with bone marrow failure, immunodeficiency, and telomere biology disorder.

Journal: European journal of human genetics : EJHG

Published: February 09, 2025

Case Report: Clinical manifestations of uncommon monogenic disorders: revisiting activated phosphoinositide 3-kinase delta syndrome 2.

Case Report: Clinical manifestations of uncommon monogenic disorders: revisiting activated phosphoinositide 3-kinase delta syndrome 2.

Journal: Frontiers in pediatrics

Published: February 03, 2025

A Gain-of -Function SLC4A3 Mutation Causes Short-QT Syndrome: From Molecular Analysis to Novel Diagnostic Testing.

A Gain-of -Function SLC4A3 Mutation Causes Short-QT Syndrome: From Molecular Analysis to Novel Diagnostic Testing.

Journal: JACC. Clinical electrophysiology

Published: November 19, 2024

Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.

Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.

Journal: European journal of neurology

Published: November 12, 2024

Showing 1-12 of 108

Last Updated: 09/26/2026