Adib A. Moukarzel
Beirut, BA 11042020, Lebanon
Last Updated: 09/26/2026
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Found 8 publications
A novel nonsense variant in POGZ expanding the spectrum of White-Sutton syndrome: A case report.
Journal: Heliyon
Published: October 03, 2024
Maralixibat in progressive familial intrahepatic cholestasis (MARCH-PFIC): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Journal: The lancet. Gastroenterology & hepatology
Published: January 04, 2024
Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.
Journal: Molecular genetics & genomic medicine
Published: June 01, 2022
Severe Social Anxiety Among Adolescents During COVID-19 Lockdown.
Journal: Journal of patient experience
Published: September 27, 2021
Novel missense mutation c.1784A>G, p.Tyr595Cys in RPS6KA3 gene responsible for Coffin-Lowry syndrome in a family with variable features and diabetes 2.
Journal: Clinical dysmorphology
Published: August 29, 2020
The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.
Journal: BMC medical genomics
Published: July 27, 2018
Showing 1-8 of 8
Last Updated: 09/26/2026