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List of works by Orly Elpeleg

A homozygous TTN gene variant associated with lethal congenital contracture syndrome

scientific article published on 01 April 2018

A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness

scientific article published on 12 November 2017

EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

scientific article

Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations

scientific article published on 23 September 2018

Grandparental genotyping enhances exome variant interpretation

scientific article published on 06 February 2020

LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood

scientific article published in July 2010

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are Associated with Impaired Neuromuscular Transmission

scientific article

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

scientific journal article

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.

scientific article published on December 2016

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