A homozygous loss-of-function variant in BICD2 is associated with lissencephaly and cerebellar hypoplasia

por Abdel-Salam, Ghada M. H., Girgis, Marian, Eid, Maha M., Sayed, Inas S. M., Abdel-Hamid, Mohamed S.
Publicado 2022

Confirmation of a Phenotypic Entity for TSPEAR Variants in Egyptian Ectodermal Dysplasia Patients and Role of Ethnicity

por Rabie, Eman A., Sayed, Inas S. M., Amr, Khalda, Ahmed, Hoda A., Mostafa, Mostafa I., Hassib, Nehal F., El-Sayed, Heba, Zada, Suher K., El-Kamah, Ghada
Publicado 2022

Gene Mutations of the Three Ectodysplasin Pathway Key Players (EDA, EDAR, and EDARADD) Account for More than 60% of Egyptian Ectodermal Dysplasia: A Report of Seven Novel Mutations

por Ahmed, Hoda A., El-Kamah, Ghada Y., Rabie, Eman, Mostafa, Mostafa I., Abouzaid, Maha R., Hassib, Nehal F., Mehrez, Mennat I., Abdel-Kader, Mohamed A., Mohsen, Yasmine H., Zada, Suher K., Amr, Khalda S., Sayed, Inas S. M.
Publicado 2021