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Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations

Archive ouverte | Alame, Saada | CCSD

International audience. Dravet syndrome, also known as severe myoclonic epilepsy in infancy, is a rare disease characterized by the appearance of different types of seizures in a healthy baby, triggered by various f...

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

Archive ouverte | Megarbane, Andre | CCSD

International audience. Background:Clinical and molecular data on the occurrence and frequency of inherited neuromuscular disorders (NMD) in the Lebanese population is scarce.Objective:This study aims to provide a r...

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

Archive ouverte | Jalkh, Nadine | CCSD

International audience. Background:The past few decades have witnessed a tremendous development in the field of genetics. Theimplementation of next generation sequencing (NGS) technologies revolutionized the field o...

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