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

por Tajir, M, Lyahyai, J, Guaoua, S, El Alloussi, M, Sefiani, A
Publicado 2020

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

por Smaili, W., Elalaoui, S. Chafai, Meier, S., Zerkaoui, M., Sefiani, A., Heinimann, K.
Publicado 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

por Berrani, H., Meskini, T., Zerkaoui, M., Merhni, H., Ettair, S., Sefiani, A., Mouane, N.
Publicado 2018

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

por Zerkaoui, M., Ratbi, I., Castellotti, B., Gellera, C., Lyahyai, J., Kriouile, Y., Sefiani, A.
Publicado 2015

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

por Adadi, N., Lahrouchi, N., Bouhouch, R., Fellat, I., Amri, R., Alders, M., Sefiani, A., Bezzina, C., Ratbi, I.
Publicado 2017

Acromelic frontonasal dysostosis and ZSWIM6 mutation: phenotypic spectrum and mosaicism

por 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.
Publicado 2016