Cardiovascular Abnormalities in Egyptian Children with Mucopolysaccharidoses

per Selim, Laila, Abdelhamid, Nehal, Salama, Emad, Elbadawy, Amera, Gamaleldin, Iman, Abdelmoneim, Mohamed, Selim, Abeer
Publicat a J Clin Diagn Res (2016)

Biallelic variants in KIF14 cause intellectual disability with microcephaly

per 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.
Publicat a Eur J Hum Genet (2018)