First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease

por Elaraby, Nesma M., Galal, Eman Reda, Abdel-Hamid, Mohamed, Elbendary, Hasnaa M., Elbadry, Mohamed, Mekkawy, Mona K., Ashaat, Neveen A., Mounir, Samir M., Ashaat, Engy A.
Publicado 2023

Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature

por Mekkawy, Mona K., Kamel, Alaa K., Thomas, Manal M., Ashaat, Engy A., Zaki, Maha S., Eid, Ola M., Ismail, Samira, Hammad, Saida A., Megahed, Hisham, ElAwady, Heba, Refaat, Khaled M., Hussien, Shymaa, Helmy, Nivine, Abd Allah, Sally G., Mohamed, Amal M., El Ruby, Mona O.
Publicado 2020

Testis formation in XX individuals resulting from novel pathogenic variants in Wilms’ tumor 1 (WT1) gene

por Eozenou, Caroline, Gonen, Nitzan, Touzon, Maria Sol, Jorgensen, Anne, Yatsenko, Svetlana A., Fusee, Leila, Kamel, Alaa K., Gellen, Balazs, Guercio, Gabriela, Singh, Priti, Witchel, Selma, Berman, Andrea J., Mainpal, Rana, Totonchi, Mehdi, Mohseni Meybodi, Anahita, Askari, Masomeh, Merel-Chali, Tiphanie, Bignon-Topalovic, Joelle, Migale, Roberta, Costanzo, Mariana, Marino, Roxana, Ramirez, Pablo, Perez Garrido, Natalia, Berensztein, Esperanza, Mekkawy, Mona K., Schimenti, John C., Bertalan, Rita, Mazen, Inas, McElreavey, Ken, Belgorosky, Alicia, Lovell-Badge, Robin, Rajkovic, Aleksandar, Bashamboo, Anu
Publicado 2020