A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22-q13.12CHOUERY, E; KFOURY, J; DELAGUE, V et al.Neurogenetics (Oxford. Print). 2008, Vol 9, Num 4, pp 287-293, issn 1364-6745, 7 p.Article

A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2CHOUERY, E; ABOU-GHOCH, J; DEBO, G et al.Clinical genetics. 2012, Vol 82, Num 5, pp 489-493, issn 0009-9163, 5 p.Article

Revisiting the craniosynostosis-radial ray hypoplasia association : Baller-Gerold syndrome caused by mutations in the RECQL4 geneVAN MALDERGEM, L; SIITONEN, H. A; PLON, S. E et al.Journal of medical genetics. 2006, Vol 43, Num 2, pp 148-152, issn 0022-2593, 5 p.Article

Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11DE SANDRE-GIOVANNOLI, A; DELAGUE, V; GRID, D et al.Journal of medical genetics. 2005, Vol 42, Num 3, pp 260-265, issn 0022-2593, 6 p.Article

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: Exclusion of MAG as a candidate geneDELAGUE, V; BAREIL, C; TUFFERY, S et al.American journal of human genetics. 2000, Vol 67, Num 1, pp 236-243, issn 0002-9297Article

Molecular screening of MECP2 gene in a cohort of Lebanese patients suspected with Rett syndrome: report on a mild case with a novel indel mutationCORBANI, S; CHOUERY, E; FAYYAD, J et al.JIDR. Journal of intellectual disability research (Print). 2012, Vol 56, pp 415-420, issn 0964-2633, 6 p., 4Article

Les récepteurs du peptide natriurétique de type B dans les cardiomyocytes hypertrophiés de rats adultes = B-type natriuretic peptide receptors in hypertrophied adult rat cardiomyocytesNADER, L; LAHOUD, L; CHOUERY, E et al.Annales de cardiologie et d'angéiologie (Paris). 2010, Vol 59, Num 1, pp 20-24, issn 0003-3928, 5 p.Article

Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection methodABIFADEL, M; JAMBART, S; BOILEAU, C et al.Clinical genetics. 2004, Vol 65, Num 2, pp 158-161, issn 0009-9163, 4 p.Article