CONSANGUINEOUS MARRIAGES IN MOROCCO AND THE CONSEQUENCE FOR THE INCIDENCE OF AUTOSOMAL RECESSIVE DISORDERS von JAOUAD, I. CHERKAOUI, ELALAOUI, S. CHAFAÏ, SBITI, A., ELKERH, F., BELMAHI, L., SEFIANI, A.

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Misdiagnosis of Tracher-Collins Syndrome Initially Attributed to Drug Teratogenicity: A Moroccan Case Report von Lamzouri, A, EL Rherbi, A, Ratbi, I, Laarabi, FZ, Chahboune, R, Elalaoui, SC, Hamdaoui, H, Bencheikh, RS, Sefiani, A

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A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report von Smaili, W, Elalaoui, S Chafai, Meier, S, Zerkaoui, M, Sefiani, A, Heinimann, K

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Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism von Twigg, S.R.F., Ousager, L.B., Miller, K.A., Zhou, Y., Elalaoui, S.C., Sefiani, A., Bak, G.S, Hove, H., Hansen, L.K., Fagerberg, C.R., Tajir, M., Wilkie, A.O.M.

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Exome sequencing revealed a novel homozygous METTL23 gene mutation leading to familial mild intellectual disability with dysmorphic features von Smaili, W., Elalaoui, S. Chafai, Zrhidri, A., Raymond, L., Egéa, G., Taoudi, M., Mouatassim, S.E.L., Sefiani, A., Lyahyai, J.

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Improved Heat Transfer by Using a Channel with Wavy Surface von Elalaoui, S., Oubarra, A., Lahjomri, J., Zniber, K.

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Molecular analysis of Sanfilippo syndrome type C in Spain: seven novel HGSNAT mutations and characterization of the mutant alleles von Canals, I, Elalaoui, SC, Pineda, M, Delgadillo, V, Szlago, M, Jaouad, IC, Sefiani, A, Chabás, A, Coll, MJ, Grinberg, D, Vilageliu, L

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Maternal Hypomethylation of KvDMR in a Monozygotic Male Twin Pair Discordant for Beckwith-Wiedemann Syndrome von Elalaoui, S.C., Garin, I., Sefiani, A., Perez de Nanclares, G.

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Autosomal dominant microtia von Chafai Elalaoui, S, Cherkaoui Jaouad, I, Rifai, L, Sefiani, A

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412 Combination of Genomic Technologies and Consanguinity in Order to Identify Pathogenic Variants in Recessive Disorders von Makrythanasis, P, Nelis, M, Santoni, FA, Guipponi, M, Béna, F, Vanier, A, Duriaux-Sail, G, Gimelli, S, Stathaki, E, Falconnet, E, Temtamy, S, Megarbane, A, Aglan, M, Zaki, M, Fokstuen, S, Bottani, A, Masri, A, Psoni, S, Kitsiou, S, Frissyra, H, Kanavakis, E, All-Allawi, N, Sefiani, A, Al-Hait, S, Elalaoui, S, Jalkh, N, Al-Gazali, L, Al-Jasmi, F, Bouhamed, H Chaabouni, Hamamy, H, Antonarakis, SE

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First nonsense variant of MED12 gene in a female with complete Maat-Kievit-Brunner phenotype of Ohdo syndrome: A case report von Amllal, N., Lyahyai, J., Elalaoui, S.C., Sefiani, A., Ratbi, I.

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Three cases of Hutchinson-Gilford progeria syndrome von Doubaj, Y, Lamzouri, A, Elalaoui, S-C, Laarabi, F-Z, Sefiani, A

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Two Infants with Beckwith-Wiedemann Syndrome von Ratbi, I, Elalaoui, S, Sefiani, A

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The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies von Petzold, Friederike, Billot, Katy, Filhol, Emilie, Martin, Yoann, Morinière, Vincent, Krug, Pauline, Tory, Kalman, Servais, Aude, Heidet, Laurence, Garcelon, Nicolas, Antignac, Corinne, Saunier, Sophie, Attié-Bitach, Tania, Mohsin, Nabil, Loirat, Chantal, Charbit, Marina, Dehennault, Maud, Gagnadoux, Marie-France, Ranchin, Bruno, Knebelmann, Bertrand, Burtey, Stéphane, Morin, Denis, Dollfus, Hélène, Hamel, Christian, Bieth, Eric, Gie, Sophie, Bessenay, Lucie, Palcoux, Jean Bernard, Dubot, Philippe, Iftene, Daouya, Lahoche, Anine, Leclerc, Anne-Laure, Milford, David, Chauveau, Dominique, Allard, Lisa, Adra, Anne-Laure, Baatard, Remy, Bacchetta, Justine, Benmati, Faïza, Boffa, Jean Jacques, Bourdat-Michel, Guylhène, Elalaoui, Siham Chafai, Graber, Denis, Diouf, Boucar, Fryer, Alan, Albano, Laetitia, Chaussenot, Annabelle, Bottani, Armand, Hummel, Aurélie, Katz, Avi, Mariat, Christiophe, Champion, Gérard, Mousson, Christiane, Baudeau, Christine, Cuntz, Delphine Hafdar, Lacombe, Didier, Charlin, Emmanuelle, Plasse, Florent, Lebas, Fanny, Dumont, Geneviève, Guigonis, Vincent, Coudert, Krier, Burglen, Lydie, Saïd-Menthon, Marie-Hélène, Nizon, Mathilde, Foulard, Michel, Brun, Nathalie, Noble, Claire Pouteil, Bernard, Raphaelle, Cahen, Rémi, Sacquepee, Mathieu, Haq, Shuman, Lanoiselée, Stéphanie, Subra, Jean-François, Cloarec, Sylvie, Lamy, Thomas, Garraud, Valérie Drouin, Finielz, Paul, Foliguet, Bernard, Francois-Pradier, Hélène, Gerard, Marion, Dubrasquet, Astrid Godron, Knoers, Nine, de Parscau, Loïc, Rio, Marlène, Merville, Pierre, Moreau, Karine, Mourad, Georges, Niel, Olivier, Malvezzi, Paolo, Petersen, M.B., Michel, Philippe, Rémy, Philippe, Pichault, Valérie, Boudailliez, Bernard, Berland, Yves, Rossi, Annick, Tsimaratos, Michel, Willems, Marjolaine, Youssef, Michel

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Syndrome d’Hutchinson-Gilford (progéria). À propos de 3 cas von Doubaj, Y., Lamzouri, A., Elalaoui, S.-C., Laarabi, F.-Z., Sefiani, A.

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Search for ReCQL4 mutations in 39 patients genotyped for suspected Rothmund-Thomson/Baller-Gerold syndromes von Piard, J., Aral, B., Vabres, P., Holder-Espinasse, M., Mégarbané, A., Gauthier, S., Capra, V., Pierquin, G., Callier, P., Baumann, C., Pasquier, L., Baujat, G., Martorell, L., Rodriguez, A., Brady, A. F., Boralevi, F., González-Enseñat, M. A., Rio, M., Bodemer, C., Philip, N., Cordier, M.-P., Goldenberg, A., Demeer, B., Wright, M., Blair, E., Puzenat, E., Parent, P., Sznajer, Y., Francannet, C., DiDonato, N., Boute, O., Barlogis, V., Moldovan, O., Bessis, D., Coubes, C., Tardieu, M., Cormier-Daire, V., Sousa, A. B., Franques, J., Toutain, A., Tajir, M., Elalaoui, S. C., Geneviève, D., Thevenon, J., Courcet, J.-B., Rivière, J.-B., Collet, C., Gigot, N., Faivre, L., Thauvin-Robinet, C.

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Transglutaminase-mediated cross-linking is involved in the stabilization of extracellular matrix in human liver fibrosis von Grenard, Pascale, Bresson-Hadni, Solange, El Alaoui, Saı̈d, Chevallier, Michèle, Vuitton, Dominique A., Ricard-Blum, Sylvie

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An inherited LMNA gene mutation in atypical Progeria syndrome von Doubaj, Yassamine, De Sandre‐Giovannoli, Annachiara, Vera, Esteves‐Vieira, Navarro, Claire Laure, Elalaoui, Siham Chafai, Tajir, Mariam, Lévy, Nicolas, Sefiani, Abdelaziz

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A recurrent mutation in Moroccan patients with Dyggve-Melchior-Clausen syndrome: Report of a new case and review von Elalaoui, Siham Chafai, Mariam, Tajir, Ilham, Ratbi, Yassamine, Doubaj, Abdelaziz, Sefiani

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Moroccan consanguineous family with Becker myotonia and review von Ratbi, Ilham, Elalaoui, Siham Chafai, Escudero, Adela, Kriouile, Yamina, Molano, Jesus, Sefiani, Abdelaziz

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