J. Abou Ghoch

发表

Homozygous mutation of the IGF1 receptor gene in a patient with severe pre- and postnatal growth failure and congenital malformations.

E. Chouery, A. Mégarbané, R. Pfäffle, 2012, European journal of endocrinology.

Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.

A. Vanderver, R. Schiffmann, B. Brais, 2011, American journal of human genetics.

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

E. Chouery, A. Mégarbané, J. Desvignes, 2019, BMC Medical Genomics.

First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene

E. Chouery, A. Mégarbané, S. Corbani, 2018, BMC Medical Genetics.

Report on a Patient with a 12q24.31 Microdeletion Inherited from an Insulin-Dependent Diabetes Mellitus Father

E. Chouery, A. Mégarbané, S. Corbani, 2013, Molecular Syndromology.

10q26.1 Microdeletion: Redefining the critical regions for microcephaly and genital anomalies

E. Chouery, A. Mégarbané, N. Choucair, 2015, American journal of medical genetics. Part A.

Mild Campomelic Dysplasia: Report on a Case and Review

E. Chouery, A. Mégarbané, S. Corbani, 2011, Molecular Syndromology.

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

Laurent Villard, E. Chouery, A. Mégarbané, 2015, Molecular Cytogenetics.

RAC1 expression and role in IL-1β production and oxidative stress generation in familial Mediterranean fever (FMF) patients

E. Chouery, A. Mégarbané, J. Lecron, 2018, European Cytokine Network.

RAC1 expression and role in IL-1β production and oxidative stress generation in familial Mediterranean fever (FMF) patients

E. Chouery, A. Mégarbané, Cynthia Al Hageh, 2018, European Cytokine Network.