Naama Orenstein

Tel Aviv, TA, Israel

Last Updated: 09/26/2026

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Found 55 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

N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder.

N-terminal truncating variants in CACNB1 cause a new congenital muscular disorder.

Journal: European journal of human genetics : EJHG

Published: June 19, 2025

A Case of Pediatric Atypical Pseudoxanthoma Elasticum.

A Case of Pediatric Atypical Pseudoxanthoma Elasticum.

Journal: International journal of dermatology

Published: April 07, 2025

A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent.

A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent.

Journal: Journal of neuromuscular diseases

Published: February 20, 2025

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

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Journal: American journal of human genetics

Published: November 09, 2023

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.

Journal: Nature communications

Published: October 09, 2023

High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel disease.

High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel disease.

Journal: Pediatric research

Published: October 03, 2023

Biallelic hypomorphic variants in CAD cause uridine-responsive macrocytic anaemia with elevated haemoglobin-A2.

Biallelic hypomorphic variants in CAD cause uridine-responsive macrocytic anaemia with elevated haemoglobin-A2.

Journal: British journal of haematology

Published: August 28, 2023

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

Journal: Cell death & disease

Published: July 14, 2023

A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.

A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.

Journal: Neuromuscular disorders : NMD

Published: June 27, 2023

Severe early-onset Wilson disease caused by a common pathogenic variant in the Bukharan Jewish population in Israel.

Severe early-onset Wilson disease caused by a common pathogenic variant in the Bukharan Jewish population in Israel.

Journal: Gene

Published: June 21, 2023

Showing 1-12 of 55

Last Updated: 09/26/2026