Sami Bizzari
Dubai, DU, United Arab Emirates
Last Updated: 09/26/2026
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Found 20 publications
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.
Journal: Molecular syndromology
Published: August 29, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Journal: Genetics in medicine open
Published: December 04, 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.
Journal: Molecular syndromology
Published: September 13, 2024
Spectrum of genetic disorders and gene variants in the United Arab Emirates national population: insights from the CTGA database.
Journal: Frontiers in genetics
Published: March 01, 2023
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
Journal: Journal of neuromuscular diseases
Published: October 04, 2021
SOX11-related syndrome: report on a new case and review.
Journal: Clinical dysmorphology
Published: October 21, 2020
Recessive marfanoid syndrome with herniation associated with a homozygous mutation in Fibulin-3.
Journal: European journal of medical genetics
Published: July 08, 2019
Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation.
Journal: Molecular syndromology
Published: May 11, 2019
The Lebanese Allele in the PET100 Gene: Report on Two New Families with Cytochrome c Oxidase Deficiency.
Journal: Journal of pediatric genetics
Published: October 16, 2018
Last Updated: 09/26/2026