Faroug Ababneh

Expanding the genetic and phenotypic spectrum of popliteal pterygium disorders

Elizabeth J. Leslie, James O’Sullivan, Michael L. Cunningham et al. · American Journal of Medical Genetics Part A · 2015 · 49 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutation of <i>HES7</i> in a large extended family with spondylocostal dysostosis and dextrocardia with <i>situs inversus</i>

Duncan B. Sparrow, Eissa Faqeih, Bahauddin Sallout et al. · American Journal of Medical Genetics Part A · 2013 · 32 citations

Life Sciences, Genetics, Molecular Genetics +12

Common disease-associated gene variants in a Saudi Arabian population

Mariam M. AlEissa, Taghrid Aloraini, Lamia Alsubaie et al. · Annals of Saudi Medicine · 2022 · 30 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial

Majid Alfadhel, Marwan Nashabat, Mohammed Saleh et al. · Orphanet Journal of Rare Diseases · 2021 · 27 citations · Full text

Pharmacy, Internal Medicine, Pharmacotherapy +13

The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data

Majid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi et al. · Frontiers in Pediatrics · 2021 · 26 citations · Full text

Life Sciences, Genetics, Neurology +13