Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine‐responsive megaloblastic anemia in an Egyptian family

by Khalda Amr, Patrycja Pawlikowska, Said Aoufouchi, Filippo Rosselli, Ghada El‐Kamah
Published 2019-07-01

Clinical and Mutational Spectrum of Xeroderma Pigmentosum in Egypt: Identification of Six Novel Mutations and Implications for Ancestral Origins

by Eman Rabie, Khalda Amr, Suher Zada, Heba El-Sayed, Mohamad El Darouti, Ghada El-Kamah
Published 2021-02-01