Cardiovascular Abnormalities in Egyptian Children with Mucopolysaccharidoses

מאת Selim, Laila, Abdelhamid, Nehal, Salama, Emad, Elbadawy, Amera, Gamaleldin, Iman, Abdelmoneim, Mohamed, Selim, Abeer
הוצא לאור ב J Clin Diagn Res (2016)

Biallelic variants in KIF14 cause intellectual disability with microcephaly

מאת 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.
הוצא לאור ב Eur J Hum Genet (2018)