S. Corbani

发表

Molecular study of WISP3 in nine families originating from the Middle‐East and presenting with progressive pseudorheumatoid dysplasia: Identification of two novel mutations, and description of a founder effect

E. Chouery, A. Mégarbané, J. Fischer, 2005, American journal of medical genetics. Part A.

Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations.

E. Chouery, A. Mégarbané, J. Loiselet, 2005, European journal of medical genetics.

Homozygous mutation of the IGF 1 receptor gene in a patient with severe pre-and postnatal growth failure and congenital malformations

E. Chouery, A. Mégarbané, R. Pfäffle, 2012 .

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

R. Lewis, N. Katsanis, E. Chouery, 2006, Nature Genetics.

Chromosome 12 Open Reading Frame 58

Laurier, J. Mandel, E. Davis, 2006 .

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.

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

R. Lewis, N. Katsanis, E. Chouery, 2006, Nature Genetics.

A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome

E. Chouery, S. Corbani, N. Jalkh, 2020, Movement disorders : official journal of the Movement Disorder Society.

The molecular basis of familial hypercholesterolemia in Lebanon: Spectrum of LDLR mutations and role of PCSK9 as a modifier gene

A. Munnich, C. Junien, C. Boileau, 2009, Human mutation.

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.

Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients

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

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.

Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype–genotype correlation

E. Chouery, A. Mégarbané, M. Morris, 2008, Haemophilia : the official journal of the World Federation of Hemophilia.

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.

Progressive pseudorheumatoid dysplasia in North and West Africa: Clinical description in ten patients with mutations of WISP3

E. Chouery, A. Mégarbané, G. Lefranc, 2017 .

N1303K (c.3909C>G) Mutation and Splicing: Implication of Its c.[744-33GATT(6); 869+11C>T] Complex Allele in CFTR Exon 7 Aberrant Splicing

A. Mégarbané, A. Kitzis, V. Ladevèze, 2015, BioMed research international.

Mild Campomelic Dysplasia: Report on a Case and Review

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

A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2

E. Chouery, A. Mégarbané, G. Lefranc, 2012, Clinical genetics.

Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

E. Chouery, A. Mégarbané, J. Mandel, 2006, European Journal of Human Genetics.

Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutation.

E. Chouery, A. Mégarbané, J. Fayyad, 2012, Journal of intellectual disability research : JIDR.

Ambiguous genitalia, microcephaly, seizures, bone malformations, and early death: A distinct MCA/MR syndrome

E. Chouery, A. Mégarbané, N. Lévy, 2011, American journal of medical genetics. Part A.

A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability

O. de Backer, E. Chouery, S. Corbani, 2020, Clinical genetics.

Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: Report on a novel mutation

E. Chouery, A. Mégarbané, N. Waked, 2012, Molecular vision.

Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1

E. Chouery, A. Mégarbané, S. Corbani, 2018, Seizure.

Molecular analysis of F8 in Lebanese haemophilia A patients: novel mutations and phenotype–genotype correlation

E. Chouery, A. Mégarbané, M. Morris, 2008, Haemophilia : the official journal of the World Federation of Hemophilia.