Autosomal recessive anhidrotic ectodermal dysplasia in a large Moroccan family.

অনুযায়ী Kabbaj, K, Baala, L, Chhoul, H, Sefiani, A
প্রকাশিত 1998

Ankyloblepharon-ectodermal Defects-cleft Lip-palate Syndrome Due to a Novel Missense Mutation in the SAM Domain of the TP63 Gene

অনুযায়ী Tajir, M, Lyahyai, J, Guaoua, S, El Alloussi, M, Sefiani, A
প্রকাশিত Balkan J Med Genet (2020)

Maternal Hypomethylation of KvDMR in a Monozygotic Male Twin Pair Discordant for Beckwith-Wiedemann Syndrome

অনুযায়ী Elalaoui, S.C., Garin, I., Sefiani, A., Perez de Nanclares, G.
প্রকাশিত 2014

A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report

অনুযায়ী Smaili, W., Elalaoui, S. Chafai, Meier, S., Zerkaoui, M., Sefiani, A., Heinimann, K.
প্রকাশিত BMC Med Genet (2017)

Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report

অনুযায়ী Berrani, H., Meskini, T., Zerkaoui, M., Merhni, H., Ettair, S., Sefiani, A., Mouane, N.
প্রকাশিত BMC Pediatr (2018)

Clinical and molecular report of novel GALC mutations in Moroccan patient with Krabbe disease: case report

অনুযায়ী Zerkaoui, M., Ratbi, I., Castellotti, B., Gellera, C., Lyahyai, J., Kriouile, Y., Sefiani, A.
প্রকাশিত BMC Pediatr (2015)

Both recessive and dominant forms of anhidrotic/hypohidrotic ectodermal dysplasia map to chromosome 2q11-q13.

অনুযায়ী Baala, L, Hadj Rabia, S, Zlotogora, J, Kabbaj, K, Chhoul, H, Munnich, A, Lyonnet, S, Sefiani, A
প্রকাশিত 1999

Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation

অনুযায়ী Ratbi, I., Fejjal, N., Micale, L., Augello, B., Fusco, C., Lyahyai, J., Merla, G., Sefiani, A.
প্রকাশিত 2013

Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report

অনুযায়ী Adadi, N., Lahrouchi, N., Bouhouch, R., Fellat, I., Amri, R., Alders, M., Sefiani, A., Bezzina, C., Ratbi, I.
প্রকাশিত J Med Case Rep (2017)

Linkage analysis of families with severe childhood autosomal recessive muscular dystrophy in Morocco indicates genetic homogeneity of the disease in north Africa.

অনুযায়ী el Kerch, F, Sefiani, A, Azibi, K, Boutaleb, N, Yahyaoui, M, Bentahila, A, Vinet, M C, Leturcq, F, Bachner, L, Beckmann, J
প্রকাশিত 1994

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

অনুযায়ী Thauvin-Robinet, C, El Ghouzzi, V, Chemaitilly, W, Dagoneau, N, Boute, O, Viot, G, Megarbane, A, Sefiani, A, Munnich, A, Le Merrer, M, Cormier-Daire, V
প্রকাশিত 2002

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

অনুযায়ী 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.
প্রকাশিত Clin Genet (2016)