Niema A. Ibrahim
Riyadh, Saudi Arabia
Last Updated: 09/26/2026
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Found 54 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
Triggers of benign recurrent intrahepatic cholestasis and its pathophysiology: a review of literature.
Journal: Acta gastro-enterologica Belgica
Published: October 02, 2021
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in ACO2.
Journal: Annals of clinical and translational neurology
Published: March 10, 2020
A genomics approach to male infertility.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: March 09, 2020
CNP deficiency causes severe hypomyelinating leukodystrophy in humans.
Journal: Human genetics
Published: January 30, 2020
A genomics approach to females with infertility and recurrent pregnancy loss.
Journal: Human genetics
Published: December 29, 2019
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia.
Journal: Human genetics
Published: December 19, 2019
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
Journal: Human genetics
Published: November 04, 2019
The morbid genome of ciliopathies: an update.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 01, 2019
Phenotypic delineation of the retinal arterial macroaneurysms with supravalvular pulmonic stenosis syndrome.
Journal: Clinical genetics
Published: September 16, 2019
Biallelic variants in CTU2 cause DREAM-PL syndrome and impair thiolation of tRNA wobble U34.
Journal: Human mutation
Published: March 04, 2019
Last Updated: 09/26/2026