Odelia Chorin

Tel Litwinsky, TA, Israel

Last Updated: 09/26/2026

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Found 37 publications

Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.

Abstracts of the 36th World Congress on Ultrasound in Obstetrics and Gynecology, 4-7 September 2026, London, UK.

Journal: Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology

Published: July 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

A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt-Jakob Disease: Experience and Insights From Israel.

A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt-Jakob Disease: Experience and Insights From Israel.

Journal: European journal of neurology

Published: January 01, 2026

The genetic and clinical characteristics of oculopharyngeal muscular dystrophy patients in Israel.

The genetic and clinical characteristics of oculopharyngeal muscular dystrophy patients in Israel.

Journal: Orphanet journal of rare diseases

Published: December 18, 2025

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

Familial hypobetalipoproteinemia in pediatric patients with fatty liver: an under-recognized cause.

Familial hypobetalipoproteinemia in pediatric patients with fatty liver: an under-recognized cause.

Journal: Frontiers in medicine

Published: October 08, 2025

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics

Published: August 08, 2025

De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.

De novo rare EMX2 variants lead to idiopathic hypogonadotropic hypogonadism.

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

Published: May 12, 2025

LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

LONP1 Variants Are Associated With Clinically Diverse Phenotypes.

Journal: Clinical genetics

Published: March 27, 2025

Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study.

Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study.

Journal: Parkinsonism & related disorders

Published: March 09, 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

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Last Updated: 09/26/2026