Taghreed M. Shuaib
Jeddah, Saudi Arabia
Last Updated: 09/26/2026
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Found 9 publications
Nationwide survey on awareness of consanguinity and genetic diseases in Saudi Arabia: challenges and potential solutions to reduce the national healthcare burden.
Journal: Human genomics
Published: September 16, 2024
Knowledge-Based Dietary Intake Recommendations of Nutrients for Pediatric Patients with Maple Syrup Urine Disease.
Journal: Healthcare (Basel, Switzerland)
Published: September 18, 2022
A Novel Homozygous Frameshift Variant in DYM Causing Dyggve-Melchior-Clausen Syndrome in Pakistani Patients.
Journal: Frontiers in pediatrics
Published: February 28, 2020
The alkylglycerol monooxygenase (AGMO) gene previously involved in autism also causes a novel syndromic form of primary microcephaly in a consanguineous Saudi family.
Journal: Journal of the neurological sciences
Published: November 30, 2015
Novel splice (IVS18+1G>C) mutation in COL2A1 causing Kniest dysplasia.
Journal: Clinical dysmorphology
Published: November 29, 2012
Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.
Journal: Human mutation
Published: March 30, 2012
Identification of a novel ZNF469 mutation in a large family with Ehlers-Danlos phenotype.
Journal: Gene
Published: February 21, 2012
Propionic acidemia associated with visual hallucinations.
Journal: Journal of child neurology
Published: December 14, 2011
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Last Updated: 09/26/2026