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Cybel Mehawej

Showing results (21-30 of 54) with videos related to

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Pediatric Dermatology|April 7, 2023
Non-syndromic hypotrichosis: A report of two novel variants in the LSS geneJoelle El Hakim, Cybel Mehawej, Eliane Chouery, et al.
Pharmacogenomics|August 19, 2021
Molecular pathogenesis of hereditary lung cancer: a literature reviewSouraya Rammal, Hampig Raphael Kourie, Nadine Jalkh, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 21, 2020
A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett SyndromeZahraa Haidar, Nadine Jalkh, Sandra Corbani, et al.
Biochimie|September 3, 2023
G-quadruplex forming sequences in the genes coding for cytochrome P450 enzymes and their potential roles in drug metabolismMona Saad, Rongxin Zhang, Anne Cucchiarini, et al.
European Journal of Medical Genetics|December 20, 2011
Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndromeCybel Mehawej, Eliane Chouery, Diane Maalouf, et al.
Molecular Syndromology|December 18, 2025
Blended Phenotypes in Siblings: Dual Diagnoses of Nicolaides-Baraitser and Craniosynostosis SyndromesSami Bizzari, Cybel Mehawej, Eliane Chouery, et al.
Clinical Genetics|June 25, 2020
A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disabilityNadine Hamdan, Cybel Mehawej, Ghada Sebaaly, et al.
Journal of Neuromuscular Diseases|August 20, 2025
Recurrent nonsense p.Trp3416* variant in the <i>DMD</i> gene identified in healthy Lebanese individuals: Implications for variant classification and genotype-phenotype correlationsEliane Chouery, Cybel Mehawej, Serena Youssef, et al.
Clinical Immunology (Orlando, Fla.)|April 8, 2023
POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairmentCybel Mehawej, Eliane Chouery, Shirine Azar-Atallah, et al.
European Journal of Medical Genetics|April 28, 2024
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotypeAndre Mégarbané, Cybel Mehawej, Daniel Mahfoud, et al.
Pageof 6

Showing results (21-30 of 54) with videos related to

Sort By:
Pageof 6
Pediatric Dermatology|April 7, 2023
Non-syndromic hypotrichosis: A report of two novel variants in the LSS geneJoelle El Hakim, Cybel Mehawej, Eliane Chouery, et al.
Pharmacogenomics|August 19, 2021
Molecular pathogenesis of hereditary lung cancer: a literature reviewSouraya Rammal, Hampig Raphael Kourie, Nadine Jalkh, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 21, 2020
A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett SyndromeZahraa Haidar, Nadine Jalkh, Sandra Corbani, et al.
Biochimie|September 3, 2023
G-quadruplex forming sequences in the genes coding for cytochrome P450 enzymes and their potential roles in drug metabolismMona Saad, Rongxin Zhang, Anne Cucchiarini, et al.
European Journal of Medical Genetics|December 20, 2011
Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndromeCybel Mehawej, Eliane Chouery, Diane Maalouf, et al.
Molecular Syndromology|December 18, 2025
Blended Phenotypes in Siblings: Dual Diagnoses of Nicolaides-Baraitser and Craniosynostosis SyndromesSami Bizzari, Cybel Mehawej, Eliane Chouery, et al.
Clinical Genetics|June 25, 2020
A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disabilityNadine Hamdan, Cybel Mehawej, Ghada Sebaaly, et al.
Journal of Neuromuscular Diseases|August 20, 2025
Recurrent nonsense p.Trp3416* variant in the <i>DMD</i> gene identified in healthy Lebanese individuals: Implications for variant classification and genotype-phenotype correlationsEliane Chouery, Cybel Mehawej, Serena Youssef, et al.
Clinical Immunology (Orlando, Fla.)|April 8, 2023
POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairmentCybel Mehawej, Eliane Chouery, Shirine Azar-Atallah, et al.
European Journal of Medical Genetics|April 28, 2024
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotypeAndre Mégarbané, Cybel Mehawej, Daniel Mahfoud, et al.
Pageof 6