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Healthcare (Basel, Switzerland)|February 11, 2023
Knowledge-Based Dietary Intake Recommendations of Nutrients for Pediatric Patients with Maple Syrup Urine DiseaseMayda Alrige, Haneen Banjar, Taghreed Shuaib, et al.Gene|September 27, 2012
Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotypeMohammed Al-Owain, Mohammed S Al-Dosari, Asma Sunker, et al.Frontiers in Pediatrics|August 9, 2020
A Novel Homozygous Frameshift Variant in <i>DYM</i> Causing Dyggve-Melchior-Clausen Syndrome in Pakistani PatientsNagwa E A Gaboon, Asia Parveen, Khaled A Ahmad, et al.Journal of Child Neurology|December 14, 2011
Propionic acidemia associated with visual hallucinationsTaghreed Shuaib, Nadia Al-Hashmi, Mohammad Ghaziuddin, et al.Human Mutation|August 7, 2012
Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfismAnas M Alazami, Mohammad Al-Owain, Fatema Alzahrani, et al.Human Genomics|December 19, 2024
Nationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burdenNura A Yousef, Ashraf A ElHarouni, Noor Ahmad Shaik, et al.American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|August 4, 2011
Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIIINamik Kaya, Hesham Aldhalaan, Banan Al-Younes, et al.Pageof 1