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

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

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3) locus, FEOM4, based on a balance translocation t(2;13) (q37.3;q12.11) and identification of candidate genesAUBOURG, P; KRAHN, M; MATTEI, M.-G et al.Journal of medical genetics. 2005, Vol 42, Num 3, pp 253-259, issn 0022-2593, 7 p.Article

Exclusion of chromosome 15q21.1 in autosomal-recessive Weill-Marchesani syndrome in an inbred Lebanese familyMEGARBANE, A; MUSTAPHA, M; BLEIK, J et al.Clinical genetics. 2000, Vol 58, Num 6, pp 473-478, issn 0009-9163Article

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

New autosomal recessive cerebellar ataxia disorder in a large inbred Lebanese familyMEGARBANE, A; DELAGUE, V; RUCHOUX, M. M et al.American journal of medical genetics. 2001, Vol 101, Num 2, pp 135-141, issn 0148-7299Article

Brown-Vialetto-van Laere syndrome in a large inbred Lebanese family : Confirmation of autosomal recessive inheritance?MEGARBANE, A; DESGUERRES, I; RIZKALLAH, E et al.American journal of medical genetics. 2000, Vol 92, Num 2, pp 117-121, issn 0148-7299Article

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

An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizuresSTRAUSSBERG, R; BASEL-VANAGAITE, L; LUPSKI, J. R et al.Neurology. 2005, Vol 64, Num 1, pp 142-144, issn 0028-3878, 3 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

Influence of pasteurization and fat composition of milk on the volatile compounds and flavor characteristics of a semi-hard cheeseBUCHIN, S; DELAGUE, V; DUBOZ, G et al.Journal of dairy science. 1998, Vol 81, Num 12, pp 3097-3108, issn 0022-0302Article