Modèles murins de surdités génétiques = Murine model of hereditary deafnessABDELHAK, S.Annales de l'Institut Pasteur. Actualités. 1995, Vol 6, Num 4, pp 275-281, issn 0924-4204Article

Retinal dystrophy and congenital glaucoma as major causes of vision loss in students attending two institutions for the visually disabled in Tunis city, TunisiaCHOUCHENE, I; DEROUICHE, K; BEN HALIM, N et al.Journal français d'ophtalmologie. 2014, Vol 37, Num 9, pp 695-701, issn 0181-5512, 7 p.Conference Paper

Genomic structure and characterisation of the promoter region of the human IL-18 geneEL KARES, R; ABDELHAK, S; DELLAGI, K et al.Archives de l'Institut Pasteur de Tunis. 2000, Vol 77, Num 1-4, pp 55-58, issn 0020-2509, 4 p.Article

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene familyABDELHAK, S; KALATZIS, V; BITNER-GLINDZICZ, M et al.Nature genetics. 1997, Vol 15, Num 2, pp 157-164, issn 1061-4036Article

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1ABDELHAK, S; KALATZIS, V; KÖNIG, R et al.Human molecular genetics (Print). 1997, Vol 6, Num 13, pp 2247-2255, issn 0964-6906Article

Characterization of a translocation-associated deletion defines the candidate region for the gene responsible for branchio-oto-renal syndromeKALTAZIS, V; ABDELHAK, S; COMPAIN, S et al.Genomics (San Diego, Calif.). 1996, Vol 34, Num 3, pp 422-425, issn 0888-7543Article

Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian familyMESSAOUD, O; REKAYA, M. Ben; ABDELHAK, S et al.British journal of dermatology (1951). 2010, Vol 162, Num 4, pp 883-886, issn 0007-0963, 4 p.Article

Les manifestations neuropsychiatriques de la maladie de Darier: résultat préliminaire d'une étude epidémioclinique et génétique de huit familles = Darier's disease: An evaluation of its neuropsychiatric componentCHEOUR, M; ZRIBI, H; ABDELHAK, S et al.L' Encéphale du praticien. 2009, Vol 35, Num 1, pp 32-35, issn 1283-8802, 4 p.Article

SPECTRE MUTATIONNEL DE LA MALADIE DE GAUCHER EN TUNISIE : FORTE FREQUENCE DES HETEROZYGOTES COMPOSITES N370S/REC NciI = Mutation Spectrum of Gaucher disease in Tunisia : High frequency of N370S/Rec Ncil compound beterozygousCHERIF, W; BEN TURKIA, H; BEN DRIDI, M.-F et al.Archives de l'Institut Pasteur de Tunis. 2007, Vol 84, Num 1-4, pp 65-70, issn 0020-2509, 6 p.Article

Trinucleotide repeat polymorphism at the D5S556 locusBURLET, P; ABDELHAK, S; PASCAL, F et al.Human molecular genetics (Print). 1993, Vol 2, Num 8, issn 0964-6906, p. 1328Article

Diagnostic moléculaire de la maladie de Gaucher en Tunisie = Molecular diagnosis of Gaucher disease in TunisiaCHERIF, W; BEN TURKIA, H; ABDELHAK, S et al.Pathologie et biologie. 2013, Vol 61, Num 2, pp 59-63, issn 0369-8114, 5 p.Article

Création et rapport du registre tunisien de l'anémie de Fanconi (TFAR) = Creation and report of the Tunisian Fanconi Anemia Registry (TFAR)MSEDDI, S. Hadiji; KAMMOUN, L; ABDENNEBI, Y. Ben et al.Archives de pédiatrie (Paris). 2012, Vol 19, Num 5, pp 467-475, issn 0929-693X, 9 p.Article

Les manifestations neuropsychiatriques de la maladie de Darier : résultat préliminaire d'une étude epidémioclinique et génétique de huit familles = Darier's disease : An evaluation of its neuropsychiatric componentCHEOUR, M; ZRIBI, H; ABDELHAK, S et al.L' Encéphale (Paris). 2009, Vol 35, Num 1, pp 32-35, issn 0013-7006, 4 p.Article

Approche moléculaire de la pathogénie des anomalies rénales dans le syndrome de Kallmann-de Morsier et dans le syndrome branchio-oto-rénal = Molecular approach of pathogeny of renal lesions in Kallmann-De Morsier syndrome and branchio-oto-renal syndromeHARDELIN, J.-P; LEVILLIERS, J; SOUSSI-YANICOSTAS, N et al.Actualités néphrologiques Jean Hamburger. 1998, pp 333-340, issn 1168-1098Article

Linkage analysis in spinal muscular atrophy, by six closely flanking markers on chromosome 5SHETH, P; ABDELHAK, S; MELKI, J et al.American journal of human genetics. 1991, Vol 48, Num 4, pp 764-768, issn 0002-9297Article

Halley-Hailey disease in TunisiaBENMOUSLY-MLIKA, R; BCHETNIA, M; BEN OSMAN, A et al.International journal of dermatology. 2010, Vol 49, Num 4, pp 396-401, issn 0011-9059, 6 p.Article

Déficit homozygote en antithrombine de type HBS ; à propos d'une famille = Homozygous antithrombin type HBS deficiency; a family studyGUERMAZI, S; ELLOUMI-ZGHAL, H; BEN HASSINE, L et al.Pathologie et biologie. 2007, Vol 55, Num 5, pp 256-261, issn 0369-8114, 6 p.Article

Etude de l'association entre la rétinopathie diabétique et un polymorphisme du gène de l'aldose réductase dans la population tunisienne = Association study between diabetic retinopathy and aldose reductase gene polymorphism in TunisiansZGHAL-MOKNI, I; ARFA, I; JEDDI, A et al.Journal français d'ophtalmologie. 2005, Vol 28, Num 4, pp 386-390, issn 0181-5512, 5 p.Article

Heterozygous manifestations in female carriers of Mal de MeledaMOKNI, M; CHARFEDDINE, C; BEN MOUSLY, R et al.Clinical genetics. 2004, Vol 65, Num 3, pp 244-246, issn 0009-9163, 3 p.Article

Prenatal prediction of Werdnig-Hoffmann disease using linked polymorphic DNA probesMELKI, J; ABDELHAK, S; BRIARD, M.-L et al.Journal of medical genetics. 1992, Vol 29, Num 3, pp 171-174, issn 0022-2593Article

Mapping of acute (type I) spinal muscular atrophy to chromosome 5q12-q14MELKI, J; SHETH, P; ABDELHAK, S et al.Lancet (British edition). 1990, Vol 336, Num 8710, pp 271-273, issn 0140-6736Article

Maladie de Darier associée à un pemphigus vulgaire : Coexistence de deux mécanismes acantholytiques = Darier's disease associated with pemphigus vulgaris: coexistence of two acantholytic mechanismsSOUISSI, A; BEN TEKAYA, N; MOURAD, M et al.Annales de dermatologie et de vénéréologie. 2006, Vol 133, Num 1, pp 63-65, issn 0151-9638, 3 p.Article

A novel missense mutation in the gene encoding SLURP-1 in patients with Mal de Meleda from northern TunisiaCHARFEDDINE, C; MOKNI, M; ABDELHAK, S et al.British journal of dermatology (1951). 2003, Vol 149, Num 6, pp 1108-1115, issn 0007-0963, 8 p.Article

Les manifestations neurologiques de la maladie de Behçet: analyse d'une série de 27 patients = Neurological involvement in Behçet's disease: evaluation of 27 patientsHOUMAN, M. H; HAMZAOUI-B'CHIR, S; BEN GHORBEL, I et al.La Revue de médecine interne (Paris). 2002, Vol 23, Num 7, pp 592-606, issn 0248-8663Article

Recombinant BCG expressing the leishmania surface antigen Gp63 induces protective immunity against Leishmania major infection in BALB/c miceABDELHAK, S; LOUZIR, H; TIMM, J et al.Microbiology (Reading). 1995, Vol 141, pp 1585-1592, issn 1350-0872, 7Article