Le diagnostic présymptomatique des maladies graves héréditaires à révélation tardive au Liban : un choix ou une nécessitéMEDLEJ-HASHIM, M; MEGARBANE, A.Santé publique (Vandoeuvre-lès-Nancy). 2005, Vol 17, Num 4, pp 617-626, issn 0995-3914, 10 p.Article

Severe autosomal dominant upper-limb mesomelic dysplasia : report of a second familyMEGARBANE, A; GHANEM, I.Clinical genetics. 2005, Vol 68, Num 6, pp 567-569, issn 0009-9163, 3 p.Article

Clinical manifestation of a severe neonatal progeroid syndromeMEGARBANE, A; LOISELET, J.Clinical genetics. 1997, Vol 51, Num 3, pp 200-204, issn 0009-9163Article

Structure du cerveau des automobilistes libanais = Brain structure of Libanous motor car manMEGARBANE, A; ABI-RACHED, H.Revue médicale libanaise. 1995, Vol 7, Num 4, pp 219-221, issn 1016-6017Article

Complexe mendélien de la ligne médiane communication interauriculaire de type ostium secundum associée à des malformations cardiaques et facio-thoraciques a propos d'un cas familial = Autosomal dominant mendelian midline complex. secundum atrial septal defect associated to cardiac and facio-thoracic defects. A familial caseSTEPHAN, E; ASHOUSH, R; MEGARBANE, A et al.Archives des maladies du coeur et des vaisseaux. 2000, Vol 93, Num 5, pp 641-647, issn 0003-9683Conference Paper

Microcephaly, colobomatous microphthalmia, short stature, and severe psychomotor retardation in two male cousins : A new MCA/MR syndrome?MEGARBANE, A; HADDAD-ZEBOUNI, S; NABBOUT, R et al.American journal of medical genetics. 1999, Vol 83, Num 2, pp 82-87, issn 0148-7299Article

New form of hidrotic ectodermal dysplasia in a Lebanese familyMEGARBANE, A; NOUJEIM, Z; FABRE, M et al.American journal of medical genetics. 1998, Vol 75, Num 2, pp 196-199, issn 0148-7299Article

Cystic fibrosis in Lebanon : distribution of CFTR mutations among Arab communitiesDESGEORGES, M; MEGARBANE, A; GUITTARD, C et al.Human genetics. 1997, Vol 100, Num 2, pp 279-283, issn 0340-6717Article

Acides aminés et trisomie 21 = Aminoacids and 21-trisomyLEJEUNE, J; RETHORE, M.-O; BARDET, J et al.Annales de génétique (Paris). 1992, Vol 35, Num 1, pp 8-13, issn 0003-3995Article

Metabolic anomalies in cri du chat syndrome (5p-) lymphocytes and de novo purine synthesisPEETERS, M. A; RETHORE, M.-O; ARIS, L et al.Annales de génétique (Paris). 1991, Vol 34, Num 3-4, pp 219-225, issn 0003-3995Article

Identification of 28 novel mutations in the Bardet―Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous diseaseMULLER, Jean; STOETZEL, C; MEGARBANE, A et al.Human genetics. 2010, Vol 127, Num 5, pp 583-593, issn 0340-6717, 11 p.Article

Mutation screening in Borjeson-Forssman-Lehmann syndrome : identification of a novel de novo PHF6 mutation in a female patientCRAWFORD, J; LOWER, K. M; HENNEKAM, R. C. M et al.Journal of medical genetics. 2006, Vol 43, Num 3, pp 238-243, issn 0022-2593, 6 p.Article

Ocular pathology in congenital heart diseaseMANSOUR, A. M; BITAR, F. F; TRABOULSI, E. I et al.Eye (London. 1987). 2005, Vol 19, Num 1, pp 29-34, issn 0950-222X, 6 p.Article

Spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type : Report of a new patient and review of the literatureMEGARBANE, A; GHANEM, I; LE MERRER, M et al.American journal of medical genetics. 2003, Vol 122A, Num 3, pp 252-256, issn 0148-7299, 5 p.Article

Adrénoleucodystrophie à forme frontale pseudo-tumorale = Frontal pseudo-tumoral form of adenoleukodystrophyKOUSSA, S; MEGARBANE, A; RIZK, T et al.Revue neurologique (Paris). 2000, Vol 156, Num 11, pp 1017-1019, issn 0035-3787Conference Paper

Two sibs with myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disordersMEGARBANE, A; KHALIL, G; WAKED, N et al.American journal of medical genetics. 1999, Vol 87, Num 4, pp 289-293, issn 0148-7299Article

High-resolution physical mapping of a 6.7-Mb YAC contig spanning a region critical for the monosomy 21 phenotype in 21q21.3-q22.1ORTI, R; MEGARBANE, A; MAUNOURY, C et al.Genomics (San Diego, Calif.). 1997, Vol 43, Num 1, pp 25-33, issn 0888-7543Article

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutationsPASSEMARD, S; TITOMANLIO, L; GUIMIOT, F et al.Neurology. 2009, Vol 73, Num 12, pp 962-969, issn 0028-3878, 8 p.Article

Recessive osteogenesis imperfecta caused by LEPRE1 mutations : clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylationWILLAERT, A; MALFAIT, F; SYMOENS, S et al.Journal of medical genetics. 2009, Vol 46, Num 4, pp 233-241, issn 0022-2593, 9 p.Article

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

Erythrodermie congénitale desquamaitve = Congenital exfoliative erythrodermaMEGARBANE, H; TOMB, R; KLEIN-TOMB, L et al.Annales de dermatologie et de vénéréologie. 2004, Vol 131, Num 2, pp 211-212, issn 0151-9638, 2 p.Article

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophyVAN MALDERGEM, L; MAGRE, J; PANZ, V. R et al.Journal of medical genetics. 2002, Vol 39, Num 10, pp 722-733, issn 0022-2593Article

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

Four sibs with dislocated elbows, bowed tibiae, scoliosis, deafness, cataract, microcephaly, and mental retardation : a new MCA/MR syndromeMEGARBANE, A; KHARRAT, K; KREICHATI, G et al.Journal of medical genetics. 1998, Vol 35, Num 9, pp 755-758, issn 0022-2593Article

Ophthalmo-acromelic syndrome (Waardenburg) with split hand and polydactylyMEGARBANE, A; SOURATY, N; TAMRAZ, J et al.Genetic counseling. 1998, Vol 9, Num 3, pp 195-199, issn 1015-8146Conference Paper