Search Results - "Kefi, R"

Clinical, genealogical and molecular investigation of the xeroderma pigmentosum type C complementation group in Tunisia by Jerbi, M., Ben Rekaya, M., Naouali, C., Jones, M., Messaoud, O., Tounsi, H., Nagara, M., Chargui, M., Kefi, R., Boussen, H., Mokni, M., Mrad, R., Boubaker, M.S., Abdelhak, S., Khaled, A., Zghal, M., Yacoub-Youssef, H.

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Thiamine responsive megaloblastic anemia mimicking mitochondrial disorders by Tinsa, F., Hechmi, M., Hadj, I.B., Khalsi, F., Chargui, M., Kefi, R., Azouz, H., Boussetta, K., Abdelhak, S.

“…Letter to the Editor…”
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Genetic basis of dominant dystrophic epidermolysis bullosa in tunisian families and co-occurrence of dominant and recessive mutations by Ben Brick, A.S., Laroussi, N., Mesrati, H., Kefi, R., Ouragini, H., Bchetnia, M., Romdhane, L., Marrakchi, S., Boubaker, M.S., Castiglia, D., Hovnanian, A., Abdelhak, S., Turki, H., Kharfi, M.

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Biotinidase deficiency: Novel mutations in Algerian patients by Tiar, A., Mekki, A., Nagara, M., Rhouma, F. Ben, Messaoud, O., Halim, N. Ben, Kefi, R., Hamlaoui, M.T., Lebied, A., Abdelhak, S.

“…Biotinidase deficiency is an autosomal recessive disorder of biotin metabolism leading to varying degrees of neurologic and cutaneous symptoms when untreated…”
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Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity by Messaoud, O., Ben Rekaya, M., Ouragini, H., Benfadhel, S., Azaiez, H., Kefi, R., Gouider-Khouja, N., Mokhtar, I., Amouri, A., Boubaker, M. S., Zghal, M., Abdelhak, S.

“…Xeroderma pigmentosum (XP) is a rare disorder characterized by a high skin sun-sensitivity predisposing to skin cancers at an early age. Among Tunisian XP…”
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Synthesis and Crystal Structure of Bis[3-(ammoniomethyl)pyridinium]-hexachloridocadmate Dihydrate by KEFI, R., ZELLER, M., NASR, C. Ben

“…The synthesis and crystal structure of a new bis[3-(ammoniomethyl)pyridinium]hexachloridocadmate dihydrate are discussed based on X-ray crystallographic…”
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Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family by Messaoud, O., Ben Rekaya, M., Kefi, R., Chebel, S., Boughammoura‐Bouatay, A., Bel Hadj Ali, H., Gouider‐Khouja, N., Zili, J., Frih‐Ayed, M., Mokhtar, I., Abdelhak, S., Zghal, M.

“…Summary Xeroderma pigmentosum (XP) is a rare genodermatosis predisposing to skin cancers. The disease is classified into eight groups. Among them, XP group A…”
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mtDNA 16184–16193 poly-C tract does not predispose to type 2 diabetes in the Mauritanian population by Meiloud, G., Kefi, R., Abdelhamid, I., Lasram, K., Samb, A., Abdelhak, S., Houmeida, Ahmed O.

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The experience of a Tunisian referral centre in prenatal diagnosis of Xeroderma pigmentosum by Messaoud, O, Ben Rekaya, M, Jerbi, M, Ouertani, I, Kefi, R, Laroussi, N, Bouyacoub, Y, Benfadhel, S, Yacoub-Youssef, H, Boubaker, S, Zghal, M, Mrad, R, Amouri, A, Abdelhak, S

“…Xeroderma pigmentosum (XP, OMIM 278700-278780) is one of the most severe genodermatoses and is relatively frequent in Tunisia. In the absence of any therapy…”
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Palaeopathological and palaeogenetic study of 13 cases of developmental dysplasia of the hip with dislocation in a historical population from southern France by Mafart, B., Kéfi, R., Béraud-Colomb, E.

“…Dislocation of the hip can be consecutive to developmental dysplasia of the hip that is linked to a complex set of genetic and mechanical factors. The purpose…”
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Synthesis and characterization of a new monophosphate (5-Cl-2,4-(OCH3)2C6H2NH3)H2PO4 by Kefi, R., Abid, S., Nasr, C. Ben, Rzaigui, M.

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Synthesis and characterization of a layered chlorozincophosphate templated by protonated 4-methylpiperidine by Kefi, R., Lefebvre, F., Ben Nasr, C.

“…A chlorozincophosphate with the composition Zn(HPO4)Cl·[C6H14N] has been synthesised under mild conditions in water medium in presence of 4‐methylpiperidine as…”
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Hydrothermal synthesis and characterization of a new inorganic–organic hybrid compound AMP[ZnCl 3] (AMP = 2-aminomethylpyridinium) by Kefi, R., Nasr, C. Ben, Lefebvre, F., Durif, A.

“…A novel organic–inorganic hybrid complex [(2-NH 2CH 2C 5H 4N)ZnCl 3] has been hydrothermally synthesized by single crystal X-ray diffraction, thermal analysis…”
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CO-13: Association du gène FTO au syndrome métabolique ou à ses composantes chez la population tunisienne by Elouej, S, Belfki-Benali, H, Nagara, M, Attaoua, R, Sallem, O, Kamoun, I, Chargui, M, Romdhane, L, Jamoussi, H, Turki, Z, Abid, A, Ben Slama, C, Bahri, S, Abdelhak, S, Grigorescu, F, Kefi, R

“…Introduction Plusieurs études ont rapporté une association entre les polymorphismes du gène FTO (fat mass and obesity associated gene) et l'indice de masse…”
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Mitochondrial DNA Sequence Diversity in a Sedentary Population from Egypt by Stevanovitch, A., Gilles, A., Bouzaid, E., Kefi, R., Paris, F., Gayraud, R. P., Spadoni, J. L., El‐Chenawi, F., Béraud‐Colomb, E.

“…Summary The mitochondrial DNA (mtDNA) diversity of 58 individuals from Upper Egypt, more than half (34 individuals) from Gurna, whose population has an ancient…”
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Crystal structure of o-cyanoaniline hydrochloride, (NCC6H4NH3)Cl by Oueslati A., Kefi R., Akriche S., Ben Nasr C.

“…C7H7ClN2, monoclinic, C1c1 (no. 9), a = 5.658(5) Å, b = 15.406(9) Å, c = 8.234(8) Å, β = 93.18(9)°, V = 716.6 Å3, Z = 4, Rgt(F) = 0.020, wRref(F2) = 0.052, T =…”
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Crystal structure, optical properties, vibrational, thermal and biological study of a new polymeric Cd(II) hybrid material by Ouerghi, Zeineb, Dridi, Imen, Roisnel, Thierry, Kefi, Riadh

“…•A new polymeric Cd(II) hybrid material has been synthesized: (C4H10N)8[CdCl5]2[CdCl4].•Intermolecular interactions were investigated by Hirshfeld surface…”
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Crystal structure of phenylpiperazinium tetrachlorozincate, (C10H16N2)[ZnCl4] by Garbia I. Ben, Kefi R., Rayes A., Nasr C. Ben

“…C10H16Cl4N2Zn, monoclinic, P121/c1 (no. 14), a = 7.768(3) Å, b = 20.393(3) Å, c = 9.615(6) Å, β = 104.75(4)°, V = 1473.0 Å3, Z = 4, Rgt(F) = 0.023, wRref(F) =…”
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Crystal structure of piperazinium tetrachlorozincate monohydrate, (C4H12N2)[ZnCL4] · H2O by Kefi R., Ben Nasr C.

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Crystal structure of phenylpiperazinium tetrachlorozincate,(C10H16N2)[ZnCl4] by Garbia I. Ben, Kefi R., Rayes A., Nasr C. Ben

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