Orly Elpeleg

5PUBLICATIONS
6CO-AUTHORS
Epigenetics (incl. genome methylation and epigenomics)NeurogeneticsGene and molecular therapyGene mappingCellular nervous system
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Publications (5)

|Dec 31, 2021
PNC2 (SLC25A36) Deficiency Associated With the Hyperinsulinism/Hyperammonemia Syndrome.

Maher A Shahroor, Francesco M Lasorsa, Vito Porcelli

|Feb 07, 2020
Grandparental genotyping enhances exome variant interpretation.

Hagit Daum, Hagar Mor-Shaked, Asaf Ta-Shma

|Sep 24, 2018
Further delineation of the clinical spectrum of de novo TRIM8 truncating mutations.

Mirna Assoum, Matthew A Lines, Orly Elpeleg

|Mar 26, 2018
A homozygous TTN gene variant associated with lethal congenital contracture syndrome.

Elena Chervinsky, Morad Khayat, Sofia Soltsman

|Nov 14, 2017
A homozygous deleterious CDK10 mutation in a patient with agenesis of corpus callosum, retinopathy, and deafness.

Vincent J Guen, Simon Edvardson, Nitay D Fraenkel

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Frequent Collaborators

1 joint publications

Morad Khayat

1 joint publications

Laurence Faivre

1 joint publications

Hagit Daum

1 joint publications

Asaf Ta-Shma