Kolexia
Vincent Marie Génétique médicale
Vincent Marie
Génétique médicale
Hôpital Hôtel-Dieu Nantes
Nantes, France
138 Activités
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{{person.topmesh1.name}} Déficience intellectuelle Microcéphalie Malformations multiples Dysostose mandibulofaciale Malformations Prédisposition génétique à une maladie Épilepsie Troubles de la croissance Encéphalopathies

Collaborateurs

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Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France
Nizon Mathilde
Nizon Mathilde
Hôpital Hôtel-Dieu Nantes, Nantes, France
Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Cogné Benjamin
Cogné Benjamin
Hôpital Hôtel-Dieu Nantes, Nantes, France

Industries

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AstraZeneca
2 collaboration(s)
Dernière en 2022
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Dernières activités

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De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
American journal of medical genetics. Part A   29 février 2024
MOSAÏQUE: Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism. National Multicentre Descriptive Study.
Essai Clinique (CHU Dijon-Bourgogne)   20 février 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 janvier 2024
P428: De novo truncating variants in ZNF865: A putative cause of a neurodevelopmental disorder
2024 ACMG Annual Clinical Genetics Meeting   01 janvier 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
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
RBMX2, a novel candidate gene for an X-linked neurodevelopmental disorder
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Correction: CDK13-related disorder: a deep characterization of speech and language abilities and addition of 33 novel cases.
European journal of human genetics : EJHG   08 décembre 2023
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
The Journal of clinical investigation   14 novembre 2023
Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genetics in medicine : official journal of the American College of Medical Genetics   30 octobre 2023