Kolexia
Toutain Annick
Génétique médicale
Centre hospitalier de Tours
Tours, France
229 Activités
0 Followers

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{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Prédisposition génétique à une maladie Faciès Microcéphalie Délétion de segment de chromosome Cardiopathies congénitales Maladies génétiques liées au chromosome X Troubles du rythme cardiaque

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Sanofi
1 collaboration(s)
Dernière en 2021
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Dernières activités

3q29 duplications: A cohort of 46 patients and a literature review.
American journal of medical genetics. Part A   29 février 2024
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses.
Molecular psychiatry   28 février 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 janvier 2024
Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Scientific reports   28 janvier 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
DNA episignature for White Sutton syndrome due to POGZ episignature
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
DISSEQ – Double-blind exome and large gene panel sequencing analyses in the first-line diagnosis of 330 patients with intellectual disability (ID): ES superiority for the identification of CNV, variants in new disease-causing genes, and new candidate genes, as well as the advantage of possible prospective reanalysis
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
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.
Journal of medical genetics   26 juillet 2023
Syndrome de Koolen de Vries
HAS Publications   15 juin 2023