M. Souaid

发表

Genetics of autoimmune thyroid disease in the Lebanese population

C. Farra, R. Medlej, G. Halaby, 2012, Journal of Community Genetics.

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

A. Inati, D. Chui, Hong‐yuan Luo, 2013, Hemoglobin.

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

Abeer J. Hani, C. Farra, J. Awwad, 2020, Journal of Pediatric Genetics.

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

C. Farra, A. Nassar, J. Awwad, 2019, Molecular Biology Reports.

Acceptance of preimplantation genetic diagnosis for β‐thalassemia in Lebanese women with previously affected children

C. Farra, I. Usta, P. Salameh, 2008, Prenatal diagnosis.

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

C. Farra, P. Khoueiry, K. Yunis, 2022 .

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

C. Farra, T. Balla, R. Maroofian, 2022, Annals of clinical and translational neurology.

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

C. Farra, M. Abboud, N. Yazbeck, 2021, Hemoglobin.

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

C. Farra, A. Nassar, J. Awwad, 2019, Molecular Biology Reports.

Genetics of autoimmune thyroid disease in the Lebanese population

C. Farra, R. Medlej, G. Halaby, 2012, Journal of Community Genetics.

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

C. Farra, N. Salem, T. Yammine, 2023, Molecular genetics & genomic medicine.

Novel SCN9A variant associated with congenital insensitivity to pain

C. Farra, N. Salem, T. Yammine, 2023, Molecular Biology Reports.

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

C. Farra, T. Yammine, J. Awwad, 2023, Clinical dysmorphology.

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

C. Farra, N. Salem, T. Yammine, 2023, Journal of Genetics.

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.

C. Farra, T. Yammine, A. Moukarzel, 2020, Clinical dysmorphology.

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

C. Farra, P. Khoueiry, K. Yunis, 2021, Annals of human genetics.