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Molecular Syndromology
|
October 12, 2019
Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation
Pratibha Nair, Sandra Sabbagh, Sami Bizzari, et al.
Annals of Human Genetics
|
September 24, 2017
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs
Fatma Bastaki, Sami Bizzari, Sana Hamici, et al.
Molecular Syndromology
|
August 7, 2025
Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype
Pratibha Nair, Sami Bizzari, Cybel Mehawej, et al.
Journal of Neuromuscular Diseases
|
October 4, 2021
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
Andre Megarbane, Sami Bizzari, Asha Deepthi, et al.
Genetics in Medicine Open
|
September 2, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs
Ruchi Jain, Sami Bizzari, Sathishkumar Ramaswamy, et al.
Journal of Neuromuscular Diseases
|
March 29, 2026
Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy
Stephany El-Hayek, Aboulfazl Rad, Sahar Sedighzadeh, et al.
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of 2
Search research articles
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Showing results (11-20 of 16) with videos related to
Sort By:
Page
of 2
You have reached the last page of results.
This site can display upto 16 results.
Molecular Syndromology
|
October 12, 2019
Report of a Second Lebanese Family with Basel-Vanagaite-Smirin-Yosef Syndrome: Possible Founder Mutation
Pratibha Nair, Sandra Sabbagh, Sami Bizzari, et al.
Annals of Human Genetics
|
September 24, 2017
Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs
Fatma Bastaki, Sami Bizzari, Sana Hamici, et al.
Molecular Syndromology
|
August 7, 2025
Co-Occurrence of Variants in 3 Genes in a Patient with Congenital Skeletal Dysplasia and Cardiac Anomalies: Diagnostic Challenge Posed by a Blended Phenotype
Pratibha Nair, Sami Bizzari, Cybel Mehawej, et al.
Journal of Neuromuscular Diseases
|
October 4, 2021
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort
Andre Megarbane, Sami Bizzari, Asha Deepthi, et al.
Genetics in Medicine Open
|
September 2, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs
Ruchi Jain, Sami Bizzari, Sathishkumar Ramaswamy, et al.
Journal of Neuromuscular Diseases
|
March 29, 2026
Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophy
Stephany El-Hayek, Aboulfazl Rad, Sahar Sedighzadeh, et al.
Page
of 2