Nour Ewida
Riyadh, 11211, Saudi Arabia
Last Updated: 09/26/2026
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Found 25 publications
The morbid genome of ciliopathies: an update.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 08, 2022
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Journal: Genome medicine
Published: May 21, 2021
PLXNA2 as a candidate gene in patients with intellectual disability.
Journal: American journal of medical genetics. Part A
Published: November 28, 2020
Exploiting the Autozygome to Support Previously Published Mendelian Gene-Disease Associations: An Update.
Journal: Frontiers in genetics
Published: July 06, 2020
A genomics approach to male infertility.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 09, 2020
The morbid genome of ciliopathies: an update.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 01, 2019
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
Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia.
Journal: American journal of medical genetics. Part A
Published: January 06, 2019
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Journal: Clinical genetics
Published: June 26, 2018
Last Updated: 09/26/2026