Autosomal recessive anhidrotic ectodermal dysplasia in a large Moroccan family.

Autor Kabbaj, K, Baala, L, Chhoul, H, Sefiani, A
Vydáno 1998

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

Autor Tajir, M, Lyahyai, J, Guaoua, S, El Alloussi, M, Sefiani, A
Vydáno v Balkan J Med Genet (2020)

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

Autor Elalaoui, S.C., Garin, I., Sefiani, A., Perez de Nanclares, G.
Vydáno 2014

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

Autor Smaili, W., Elalaoui, S. Chafai, Meier, S., Zerkaoui, M., Sefiani, A., Heinimann, K.
Vydáno v 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

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

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

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

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

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

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

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

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

Autor Adadi, N., Lahrouchi, N., Bouhouch, R., Fellat, I., Amri, R., Alders, M., Sefiani, A., Bezzina, C., Ratbi, I.
Vydáno v 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.

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

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

Autor 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
Vydáno 2002

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

Autor 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.
Vydáno v Clin Genet (2016)