Kolexia
Francannet Christine
Génétique médicale
Hôpital Estaing
Clermont-Ferrand, France
137 Activités
0 Followers

Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Prédisposition génétique à une maladie Délétion de segment de chromosome Microcéphalie Cardiopathies congénitales Malformations Malformations crâniofaciales Faciès

Industries

Biogen
1 collaboration(s)
Dernière en 2019
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Dernières activités

Relevance of Extending FGFR3 Gene Analysis in Osteochondrodysplasia to Non-Coding Sequences: A Case Report.
Genes   10 février 2024
National French retrospective cohort of 22 individuals with kyphoscoliotic Ehlers-Danlos syndrome: emphasis on vascular involvement
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
A Phase II double-blind multi-center, placebo-controlled trial, to assess the efficacy and safety of alpelisib (BYL719) in pediatric and adult patients with Megalencephaly-CApillary malformation Polymicrogyria syndrome (MCAP): the SESAM trial
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Unexpected inheritance patterns in a large cohort of patients with a suspected Bardet-Biedl or Alström syndrome
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
OPALE: Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
Essai Clinique (Hôpital Pitie Salpetriere)   13 décembre 2023
EXOCARE: An Investigation of Susceptibility Genes for Rare Cancers in Children by Exome Sequencing
Essai Clinique (CHU Angers)   09 novembre 2023
Growth charts in DYRK1A syndrome.
American journal of medical genetics. Part A   22 septembre 2023
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
Journal of medical genetics   21 septembre 2023
CHD GENES: Congenital Heart Disease GEnetic NEtwork Study (CHD GENES)
Essai Clinique (Children's Hospital Medical Center, Cincinnati)   29 août 2023
AnDDI-prenatome - the French national project of prenatal trio exome sequencing: 43% of diagnostic yield in 28 days with 80% pregnancy care changes
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023