Tarfa Sheddi-Al
Riyadh, Saudi Arabia
Last Updated: 09/26/2026
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Found 12 publications
Biallelic Mutations in Tetratricopeptide Repeat Domain 26 (Intraflagellar Transport 56) Cause Severe Biliary Ciliopathy in Humans.
Journal: Hepatology (Baltimore, Md.)
Published: April 29, 2019
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.
Journal: Human mutation
Published: March 04, 2019
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly.
Journal: Human genetics
Published: December 31, 2018
NUP214 deficiency causes severe encephalopathy and microcephaly in humans.
Journal: Human genetics
Published: December 31, 2018
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Journal: Clinical genetics
Published: June 26, 2018
Bi-allelic Mutations in FAM149B1 Cause Abnormal Primary Cilium and a Range of Ciliopathy Phenotypes in Humans.
Journal: American journal of human genetics
Published: March 20, 2018
Genomic and phenotypic delineation of congenital microcephaly.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 14, 2018
The genetic landscape of familial congenital hydrocephalus.
Journal: Annals of neurology
Published: March 20, 2017
ISCA2 mutation causes infantile neurodegenerative mitochondrial disorder.
Journal: Journal of medical genetics
Published: December 26, 2014
Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
Journal: American journal of human genetics
Published: February 07, 2013
Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes.
Journal: Journal of medical genetics
Published: April 14, 2012
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
Journal: American journal of human genetics
Published: January 04, 2012
Showing 1-12 of 12
Last Updated: 09/26/2026