Cardiovascular Abnormalities in Egyptian Children with Mucopolysaccharidoses

por Selim, Laila, Abdelhamid, Nehal, Salama, Emad, Elbadawy, Amera, Gamaleldin, Iman, Abdelmoneim, Mohamed, Selim, Abeer
Publicado en J Clin Diagn Res (2016)

Biallelic variants in KIF14 cause intellectual disability with microcephaly

por Makrythanasis, Periklis, Maroofian, Reza, Stray-Pedersen, Asbjørg, Musaev, Damir, Zaki, Maha S., Mahmoud, Iman G., Selim, Laila, Elbadawy, Amera, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Gambin, Tomasz, Sorte, Hanne S., Heiberg, Arvid, McEvoy-Venneri, Jennifer, James, Kiely N., Stanley, Valentina, Belandres, Denice, Guipponi, Michel, Santoni, Federico A., Ahangari, Najmeh, Tara, Fatemeh, Doosti, Mohammad, Iwaszkiewicz, Justyna, Zoete, Vincent, Backe, Paul Hoff, Hamamy, Hanan, Gleeson, Joseph G., Lupski, James R., Karimiani, Ehsan Ghayoor, Antonarakis, Stylianos E.
Publicado en Eur J Hum Genet (2018)