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A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.

Autor: Megarbane A; Department of Human Genetics, Gilbert and Rose-Mary Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.; Institut Jérôme Lejeune, Paris, France., Bizzari S; Centre for Arab Genomic Studies, Dubai, UAE., Deepthi A; Centre for Arab Genomic Studies, Dubai, UAE., Sabbagh S; Department of Pediatrics, Hôtel Dieu de France Hospital, Beirut, Lebanon., Mansour H; Department of Pediatrics, Saint George Hospital, Balamand University, Beirut, Lebanon., Chouery E; Department of Human Genetics, Gilbert and Rose-Mary Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon., Hmaimess G; Department of Pediatrics, Saint George Hospital, Balamand University, Beirut, Lebanon., Jabbour R; Department of Neurology, Saint George Hospital, Balamand University, Beirut, Lebanon., Mehawej C; Department of Human Genetics, Gilbert and Rose-Mary Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon., Alame S; Department of Neuropediatrics, Lebanese University, Beirut, Lebanon., Hani A; Departments of Pediatrics and Neurology, Gilbert and Rose-Mary Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon., Hasbini D; Department of Pediatric Neurology, Rafic Hariri University Hospital, Beirut, Lebanon., Ghanem I; Department of Orthopedics, Hotel Dieu de France Hospital, Beirut, Lebanon., Koussa S; Department of Neurology, Geitaoui Lebanese University Hospital, Beirut, Lebanon., Al-Ali MT; Centre for Arab Genomic Studies, Dubai, UAE., Obeid M; Genetic laboratory, American University of Science and Technology, Lebanon., Talea DB; Genetic laboratory, American University of Science and Technology, Lebanon., Lefranc G; Institut de Génétique Humaine, UMR 9002 CNRS-Université de Montpellier, France., Lévy N; Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France.; AP-HM, Département de Génétique Médicale, CHU Timone, Marseille., Leturcq F; Service de Génétique, Hopital Cochin, Paris, France., El Hayek S; Centre for Arab Genomic Studies, Dubai, UAE., Delague V; Aix Marseille Univ, Inserm, MMG, U 1251, Marseille, France., Urtizberea JA; Institut de Myologie, Paris, France.

Publikováno v: Journal of neuromuscular diseases [J Neuromuscul Dis] 2022; Vol. 9 (1), pp. 193-210.

Catalogue for Transmission Genetics in Arabs (CTGA) Database: Analysing Lebanese Data on Genetic Disorders.

Autor: Bizzari S; Centre for Arab Genomic Studies, Dubai 22252, United Arab Emirates., Nair P; Centre for Arab Genomic Studies, Dubai 22252, United Arab Emirates., Deepthi A; Centre for Arab Genomic Studies, Dubai 22252, United Arab Emirates., Hana S; Centre for Arab Genomic Studies, Dubai 22252, United Arab Emirates., Al-Ali MT; Centre for Arab Genomic Studies, Dubai 22252, United Arab Emirates., Megarbané A; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Beirut 13-5053, Lebanon., El-Hayek S; Centre for Arab Genomic Studies, Dubai 22252, United Arab Emirates.

Publikováno v: Genes [Genes (Basel)] 2021 Sep 27; Vol. 12 (10). Date of Electronic Publication: 2021 Sep 27.

Developmental delay, intellectual disability, short stature, subglottic stenosis, hearing impairment, onychodysplasia of the index fingers, and distinctive facial features: A newly reported autosomal recessive syndrome.

Autor: Mégarbané A; Institut Jérôme Lejeune, Paris, France.; Faculty of Medical Sciences, Lebanese University, Beirut, Lebanon., Hana S; Centre for Arab Genomic Studies, Dubai, UAE., El-Hayek S; Centre for Arab Genomic Studies, Dubai, UAE., Gambarini A; Institut Jérôme Lejeune, Paris, France., Al-Ali MT; Centre for Arab Genomic Studies, Dubai, UAE., Delague V; Aix Marseille University, Inserm, MMG, Marseille, France.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Aug; Vol. 182 (8), pp. 1865-1872. Date of Electronic Publication: 2020 Jul 02.

Further Delineation of the TRAPPC6B Disorder: Report on a New Family and Review.

Autor: Nair P; Centre for Arab Genomic Studies, Dubai, UAE., El-Bazzal L; Aix Marseille University, Inserm, Marseille Medical Genetics., Mansour H; (MMG), U 1251, Marseille, France., Sabbagh S; Department of Pediatrics, Saint George Hospital, Beirut, Lebanon., Al-Ali MT; Centre for Arab Genomic Studies, Dubai, UAE., Gambarini A; Department of Pediatrics, Hotel-Dieu de France, Beirut, Lebanon., Delague V; Aix Marseille University, Inserm, Marseille Medical Genetics., El-Hayek S; Centre for Arab Genomic Studies, Dubai, UAE., Mégarbané A; Department of Pediatrics, Hotel-Dieu de France, Beirut, Lebanon.; Institut Jérôme Lejeune, BioJeL Biological Resource Center (CRB BioJeL), Paris, France.

Publikováno v: Journal of pediatric genetics [J Pediatr Genet] 2019 Dec; Vol. 8 (4), pp. 252-256. Date of Electronic Publication: 2019 Jul 30.