Cardiovascular Abnormalities in Egyptian Children with Mucopolysaccharidoses

door Selim, Laila, Abdelhamid, Nehal, Salama, Emad, Elbadawy, Amera, Gamaleldin, Iman, Abdelmoneim, Mohamed, Selim, Abeer
Gepubliceerd in J Clin Diagn Res (2016)

Biallelic variants in KIF14 cause intellectual disability with microcephaly

door 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.
Gepubliceerd in Eur J Hum Genet (2018)