Maha Abdulrahim

Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy

Holger Hengel, Célia Bosso-Lefèvre, George Grady et al. · Nature Communications · 2020 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Post-acute COVID-19 condition in Saudi Arabia: A national representative study

Faten A. Alradini, Fahad Alamri, Muna Aljahany et al. · Journal of Infection and Public Health · 2022 · 28 citations · Full text

Veterinary Medicine, Infectious Diseases, Disease Surveillance +12

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

Mazhor Aldosary, Shahad Baselm, Maha Abdulrahim et al. · JIMD Reports · 2021 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Homozygous loss‐of‐function variants of <i>TASP1</i> , a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies

Jehan Suleiman, Korbinian M. Riedhammer, Timothy Jicinsky et al. · Human Mutation · 2019 · 13 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17