Noa Shahar-Ruhrman

Petah Tiqwa, M 49100, Israel

Last Updated: 09/26/2026

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Found 24 publications

Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies.

Improvement of Bone Mineral Density in Patients with Type 1 Gaucher Disease Treated with Velaglucerase Alfa: Results from Clinical Studies.

Journal: Journal of clinical medicine

Published: January 19, 2026

Mono and Biallelic Variants in TRIM63 Are Frequently Associated With a Unique Form of Hypertrophic Cardiomyopathy.

Mono and Biallelic Variants in TRIM63 Are Frequently Associated With a Unique Form of Hypertrophic Cardiomyopathy.

Journal: Circulation. Genomic and precision medicine

Published: January 27, 2025

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

Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort.

Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort.

Journal: Prenatal diagnosis

Published: May 07, 2024

Real-World Experiences with Taliglucerase Alfa Home Infusions for Patients with Gaucher Disease: A Global Cohort Study.

Real-World Experiences with Taliglucerase Alfa Home Infusions for Patients with Gaucher Disease: A Global Cohort Study.

Journal: Journal of clinical medicine

Published: August 02, 2023

Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas.

Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas.

Journal: Genetics in medicine open

Published: November 19, 2022

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

Challenging the Use of Hematopoietic Stem Cell Transplantation in Gaucher Disease.

Challenging the Use of Hematopoietic Stem Cell Transplantation in Gaucher Disease.

Journal: Journal of pediatric hematology/oncology

Published: October 26, 2021

Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia.

Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia.

Journal: European journal of neurology

Published: September 04, 2021

DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition.

DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition.

Journal: Clinical genetics

Published: August 23, 2021

The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study.

The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study.

Journal: Prenatal diagnosis

Published: August 22, 2021

Experts' views on COVID-19 vaccination and the impact of the pandemic on patients with Gaucher disease.

Experts' views on COVID-19 vaccination and the impact of the pandemic on patients with Gaucher disease.

Journal: British journal of haematology

Published: May 12, 2021

Showing 1-12 of 24

Last Updated: 09/26/2026