Anne-Céline Gillart

Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases

Pratibha Nair, Sandra Sabbagh, Hicham Mansour et al. · Molecular Genetics & Genomic Medicine · 2018 · 34 citations · Full text

Life Sciences, Genetics, Pediatrics +17

A 56-year-old female patient with facio-oculo-acoustico-renal syndrome (FOAR) syndrome. Report on the natural history and of a novel mutation

Samantha Stora, Martine Conte, Éliane Chouery et al. · European Journal of Medical Genetics · 2009 · 10 citations

Life Sciences, Nephrology, Human Genetics +7

A novel EXT2 mutation in a consanguineous family with severe developmental delay, microcephaly, seizures, feeding difficulties, and osteopenia extends the phenotypic spectrum of autosomal recessive EXT2-related syndrome (AREXT2)

Lara El-Bazzal, Alexandre Atkinson, Anne-Céline Gillart et al. · European Journal of Medical Genetics · 2018 · 10 citations

Life Sciences, Genetics, Molecular Genetics +16