Clinical, Biochemical, and Genetic Heterogeneity in Glutaric Aciduria Type II Patients

por Ali, Amanat, Almesmari, Fatmah Saeed Ali, Dhahouri, Nahid Al, Saleh Ali, Arwa Mohammad, Aldhanhani, Mohammed Ahmed Ali Mohamed Ahmed, Vijayan, Ranjit, Al Tenaiji, Amal, Al Shamsi, Aisha, Hertecant, Jozef, Al Jasmi, Fatma
Publicado 2021

A recurrent, homozygous EMC10 frameshift variant is associated with a syndrome of developmental delay with variable seizures and dysmorphic features

por Shao, Diane D., Straussberg, Rachel, Ahmed, Hind, Khan, Amjad, Tian, Songhai, Hill, R. Sean, Smith, Richard S., Majmundar, Amar J., Ameziane, Najim, Neil, Jennifer E., Yang, Edward, Al Tenaiji, Amal, Jamuar, Saumya S., Schlaeger, Thorsten M., Al-Saffar, Muna, Hovel, Iris, Al-Shamsi, Aisha, Basel-Salmon, Lina, Amir, Achiya Z., Rento, Lariza M., Lim, Jiin Ying, Ganesan, Indra, Shril, Shirlee, Evrony, Gilad, Barkovich, A. James, Bauer, Peter, Hildebrandt, Friedhelm, Dong, Min, Borck, Guntram, Beetz, Christian, Al-Gazali, Lihadh, Eyaid, Wafaa, Walsh, Christopher A.
Publicado 2021