Alvit Veber

Tel Litwinsky, TA, Israel

Last Updated: 09/26/2026

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Found 11 publications

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

Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.

Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.

Journal: Human genetics

Published: June 20, 2022

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

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl inositol deficiency due to a PIGM promoter mutation.

Journal: Molecular genetics and metabolism

Published: July 17, 2019

Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature.

Progressive Pseudorheumatoid Dysplasia resolved by whole exome sequencing: a novel mutation in WISP3 and review of the literature.

Journal: BMC medical genetics

Published: November 19, 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

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

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Last Updated: 09/26/2026