Mirna Souaid

Beirut, BA 11042020, Lebanon

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 13 publications

A homozygous missense variant in PTPN2 with early-onset Crohn's disease, growth failure and dysmorphic features in an infant: a case report.

A homozygous missense variant in PTPN2 with early-onset Crohn's disease, growth failure and dysmorphic features in an infant: a case report.

Journal: Journal of genetics

Published: August 04, 2023

Novel SCN9A variant associated with congenital insensitivity to pain.

Novel SCN9A variant associated with congenital insensitivity to pain.

Journal: Molecular biology reports

Published: February 23, 2023

Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features.

Novel intronic JAG1 variant associated with Alagille syndrome in a three-generation Lebanese family with variable features.

Journal: Clinical dysmorphology

Published: February 13, 2023

PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.

PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.

Journal: Annals of clinical and translational neurology

Published: June 10, 2022

Analysis of ASS1 gene in ten unrelated middle eastern families with citrullinemia type 1 identifies rare and novel variants.

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

Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy.

Identification of a novel nonsense variant in FYCO1 gene associated with infantile cataract and cortical atrophy.

Journal: Ophthalmic genetics

Published: July 20, 2021

The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study.

The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study.

Journal: Hemoglobin

Published: May 05, 2021

CFTR mutational screening by next-generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population.

CFTR mutational screening by next-generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population.

Journal: Annals of human genetics

Published: April 29, 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.

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

17p13.3 Microduplication Syndrome: Further Delineating the Clinical Spectrum.

17p13.3 Microduplication Syndrome: Further Delineating the Clinical Spectrum.

Journal: Journal of pediatric genetics

Published: October 09, 2019

BACs-on-Beads™ assay, a rapid aneuploidy test, improves the diagnostic yield of conventional karyotyping.

BACs-on-Beads™ assay, a rapid aneuploidy test, improves the diagnostic yield of conventional karyotyping.

Journal: Molecular biology reports

Published: March 18, 2019

Identification of the first mutation in a BRE motif of the β-globin gene and its inheritance with two other α-globin gene mutations in a Lebanese family.

Identification of the first mutation in a BRE motif of the β-globin gene and its inheritance with two other α-globin gene mutations in a Lebanese family.

Journal: Hemoglobin

Published: March 09, 2013

Showing 1-12 of 13

Last Updated: 09/26/2026