Haike Wolf-Reznik

Sheba Med. Ctr
Ramat Gan, TA, Israel

Last Updated: 09/26/2026

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Found 38 publications

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

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

Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screening.

Evaluation of the digital genetic assistant in technology assisted genetic counseling for genetic carrier screening.

Journal: NPJ digital medicine

Published: November 18, 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

Multiethnic prevalence of the APOL1 G1 and G2 variants among the Israeli dialysis population.

Multiethnic prevalence of the APOL1 G1 and G2 variants among the Israeli dialysis population.

Journal: Clinical kidney journal

Published: October 08, 2024

Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.

Newborn screening algorithm distinguishing potential symptomatic isovaleric acidemia from asymptomatic newborns.

Journal: Journal of inherited metabolic disease

Published: April 12, 2024

The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world setting.

The yield of genetic workup for middle-aged and elderly patients with neurological disorders in a real-world setting.

Journal: Journal of the neurological sciences

Published: November 07, 2023

Expanded targeted preconception screening panel in Israel: findings and insights.

Expanded targeted preconception screening panel in Israel: findings and insights.

Journal: Journal of medical genetics

Published: September 10, 2023

Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity.

Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity.

Journal: European journal of medical genetics

Published: April 26, 2021

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.

A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies.

Journal: Scientific reports

Published: April 15, 2021

Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.

Early and late manifestations of neuropathy due to HSPB1 mutation in the Jewish Iranian population.

Journal: Annals of clinical and translational neurology

Published: November 11, 2020

Showing 1-12 of 38

Last Updated: 09/26/2026