A Novel De Novo Mutation of the DHX30 Gene in a Patient With Neurodevelopmental Disorder, Severe Motor Impairment, and Absent Language (NEDMIAL)

por Alomaim, Mohammad M, Mushiba, Aziza M
Publicado 2023

A Novel SCNN1A Variation in a Patient with Autosomal-recessive Pseudohypoaldosteronism Type 1

por Huneif, Mohammed Ayed, Alhazmy, Ziyad Hamad, Shoomi, Anas M., Alghofely, Mohammed A., Heena, Humariya, Mushiba, Aziza M., Alsaheel, Abdulhamid
Publicado 2022