SLC25A42‐associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion

por Aldosary, Mazhor, Baselm, Shahad, Abdulrahim, Maha, Almass, Rawan, Alsagob, Maysoon, AlMasseri, Zainab, Huma, Rozeena, AlQuait, Laila, Al‐Shidi, Tarfa, Al‐Obeid, Eman, AlBakheet, Albandary, Alahideb, Basma, Alahaidib, Lujane, Qari, Alya, Taylor, Robert W., Colak, Dilek, AlSayed, Moeenaldeen D., Kaya, Namik
Publicado 2021

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics

por Maddirevula, Sateesh, Kuwahara, Hiroyuki, Ewida, Nour, Shamseldin, Hanan E., Patel, Nisha, Alzahrani, Fatema, AlSheddi, Tarfa, AlObeid, Eman, Alenazi, Mona, Alsaif, Hessa S., Alqahtani, Maha, AlAli, Maha, Al Ali, Hatoon, Helaby, Rana, Ibrahim, Niema, Abdulwahab, Firdous, Hashem, Mais, Hanna, Nadine, Monies, Dorota, Derar, Nada, Alsagheir, Afaf, Alhashem, Amal, Alsaleem, Badr, Alhebbi, Hamoud, Wali, Sami, Umarov, Ramzan, Gao, Xin, Alkuraya, Fowzan S.
Publicado 2020