Kolexia
Odent Sylvie
Médecine générale
Hôpital Sud Rennes
Rennes, France
432 Activités
1.3 K Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Holoprosencéphalie Maladies rares Prédisposition génétique à une maladie Syndrome de Marfan Maladies génétiques congénitales Délétion de segment de chromosome Microcéphalie

Industries

Sanofi
2 collaboration(s)
Dernière en 2022
EXPRESSIONS SANTE
1 collaboration(s)
Dernière en 2021
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Dernières activités

DISSEQ: Medico-economic Evaluation of Different High-throughput Sequencing Strategies in the Diagnosis of Patients With Intellectual Deficiency
Essai Clinique (CHU Dijon-Bourgogne)   18 mars 2024
Pathogenic variants affecting the TB5 domain of the fibrillin-1 protein: not only in geleophysic/acromicric dysplasias but also in Marfan syndrome.
Journal of medical genetics   08 mars 2024
DEFIDIAG: Etude Pilote Des différentes stratégies de séquençage Haut débit du génome Pour le Diagnostic génétique Des Patients Atteints de déficience Intellectuelle
Essai Clinique (Institut National de la Santé Et de la Recherche Médicale, France)   04 mars 2024
OMIXCARE: OMICS technologiessolved about 33% of the patientswith heterogeneous rareneuro-developmental disordersand negative exome sequencingresults and identified 13%additional candidate variants
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Severe premature ovarian insufficiency: don’t forget about men
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Optical Genome Mapping. Contribution to the Etiological Diagnosis of Developmental disorders : experience of the Nantes Genetic Department on over 60 individuals
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Syntelencephaly (Middle interhemispheric variant): an holoprosencephaly (HPE) like the others?
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
isolated median alveolar cleft: mild manifestation of familial frontorhiny with homozygous ALX3 pathogenic variant
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Genomic newborn screening in France: from a social acceptability study to a pilot project
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024