Nechama Shalva

Ramat Gan, TA 52621, Israel

Last Updated: 09/26/2026

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Found 14 publications

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

Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked Defects.

Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked Defects.

Journal: Antioxidants (Basel, Switzerland)

Published: October 23, 2025

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

Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts.

Biallelic MED29 variants cause pontocerebellar hypoplasia with cataracts.

Journal: European journal of human genetics : EJHG

Published: November 01, 2024

Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene.

Oculocutaneous albinism and bleeding diathesis due to a novel deletion in the HPS3 gene.

Journal: Frontiers in genetics

Published: May 04, 2022

Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI).

Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI).

Journal: American journal of medical genetics. Part A

Published: April 16, 2021

Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.

Whole-exome sequencing reveals a monogenic cause in 56% of individuals with laterality disorders and associated congenital heart defects.

Journal: Journal of medical genetics

Published: February 09, 2021

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease.

Four patients with D-bifunctional protein (DBP) deficiency: Expanding the phenotypic spectrum of a highly variable disease.

Journal: Molecular genetics and metabolism reports

Published: June 01, 2020

Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.

Novel homozygous ENPP1 mutation causes generalized arterial calcifications of infancy, thrombocytopenia, and cardiovascular and central nervous system syndrome.

Journal: American journal of medical genetics. Part A

Published: November 20, 2018

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.

Novel WWOX deleterious variants cause early infantile epileptic encephalopathy, severe developmental delay and dysmorphism among Yemenite Jews.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: September 26, 2018

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

Journal: Brain : a journal of neurology

Published: September 12, 2016

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder.

Journal: American journal of human genetics

Published: July 25, 2016

Showing 1-12 of 14

Last Updated: 09/26/2026