Taghreed Shuaib

Taghreed Shuaib

King Abdulaziz University - Jeddah / Saudi Arabia
Natural Sciences / Molecular Biology & Genetics
AD Scientific Index ID: 405640
جامعة الملك عبد العزيز
person_outline Taghreed Shuaib's MOST POPULAR ARTICLES
1-) The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomesD Monies, M Abouelhoda, M AlSayed, Z Alhassnan, M Alotaibi, H Kayyali, ...Human genetics 136, 921-939, 20172172017
2-) Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfismAM Alazami, M Al‐Owain, F Alzahrani, T Shuaib, H Al‐Shamrani, ...Human mutation 33 (10), 1429-1434, 2012722012
3-) Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIIIN Kaya, H Aldhalaan, B Al‐Younes, D Colak, T Shuaib, F Al‐Mohaileb, ...American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 156 …, 2011672011
4-) Novel mutation in GLRB in a large family with hereditary hyperekplexiaM Al‐Owain, D Colak, A Al‐Bakheet, N Al‐Hashmi, T Shuaib, ...Clinical genetics 81 (5), 479-484, 2012472012
5-) Propionic acidemia associated with visual hallucinationsT Shuaib, N Al-Hashmi, M Ghaziuddin, E Megdad, D Abebe, A Al-Saif, ...Journal of child neurology 27 (6), 799-803, 2012302012