Sandra Corbani

Jbail, JL, Lebanon

Last Updated: 09/26/2026

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Found 22 publications

Genetic carrier frequency in genes involved in inborn errors of immunity in the lebanese population.

Genetic carrier frequency in genes involved in inborn errors of immunity in the lebanese population.

Journal: Scientific reports

Published: April 17, 2026

Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy.

Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy.

Journal: Journal of neuromuscular diseases

Published: March 29, 2026

Blended Phenotypes in Siblings: Dual Diagnoses of Nicolaides-Baraitser and Craniosynostosis Syndromes.

Blended Phenotypes in Siblings: Dual Diagnoses of Nicolaides-Baraitser and Craniosynostosis Syndromes.

Journal: Molecular syndromology

Published: August 29, 2025

Recurrent nonsense p.Trp3416* variant in the DMD gene identified in healthy Lebanese individuals: Implications for variant classification and genotype-phenotype correlations.

Recurrent nonsense p.Trp3416* variant in the DMD gene identified in healthy Lebanese individuals: Implications for variant classification and genotype-phenotype correlations.

Journal: Journal of neuromuscular diseases

Published: August 20, 2025

Association of the MUC5B promoter polymorphism with idiopathic pulmonary fibrosis in a lebanese cohort.

Association of the MUC5B promoter polymorphism with idiopathic pulmonary fibrosis in a lebanese cohort.

Journal: Frontiers in genetics

Published: December 13, 2024

Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype.

Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype.

Journal: Molecular syndromology

Published: September 13, 2024

Endophilin A2 Deficiency Impairs Antibody Production in Humans.

Endophilin A2 Deficiency Impairs Antibody Production in Humans.

Journal: Journal of clinical immunology

Published: August 13, 2024

Predicting Consanguinity Rates from Exome Sequencing Data in the Lebanese Population.

Predicting Consanguinity Rates from Exome Sequencing Data in the Lebanese Population.

Journal: The Journal of molecular diagnostics : JMD

Published: August 06, 2024

Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases.

Expanding the phenotypes of ABL1 deficiency syndromes: When mutations in different isoforms Lead to different diseases.

Journal: Clinical genetics

Published: July 09, 2024

POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments.

POLD3 haploinsufficiency is linked to non-syndromic sensorineural adult-onset progressive hearing and balance impairments.

Journal: European journal of human genetics : EJHG

Published: April 23, 2024

Three Complex alleles associated with N1303K mutation and their molecular consequences.

Three Complex alleles associated with N1303K mutation and their molecular consequences.

Journal: Cellular and molecular biology (Noisy-le-Grand, France)

Published: March 30, 2022

A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.

A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability.

Journal: Clinical genetics

Published: May 20, 2020

Showing 1-12 of 22

Last Updated: 09/26/2026