Kolexia
Genevieve David Génétique médicale
Genevieve David
Génétique médicale
Hôpital Arnaud de Villeneuve
Limoges, France
372 Activités
1.8 K Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Prédisposition génétique à une maladie Malformations multiples Faciès Maladies vestibulaires Hémopathies Maladies rares Microcéphalie Épilepsie

Collaborateurs

Voir plus
Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Odent Sylvie
Odent Sylvie
Hôpital Sud Rennes, Rennes, France
Lacombe Didier
Lacombe Didier
Camsp Polyvalent, Bordeaux, France
Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France

Industries

Voir plus
Ipsen
5 collaboration(s)
Dernière en 2021
EXAFIELD
2 collaboration(s)
Dernière en 2022
Pfizer
1 collaboration(s)
Dernière en 2021
{{person.topindus4.name}}
{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

Voir plus
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
Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.
British journal of haematology   03 mars 2024
Speech and language in DDX3X-neurodevelopmental disorder: A call for early augmentative and alternative communication intervention.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics   29 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
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene in neurodevelopmental proteasomopathies.
medRxiv : the preprint server for health sciences   26 janvier 2024
Data (gold) mining in genomic databases subsequent to intensive prospective bibliographic monitoring: a substantial diagnostic rate
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Update on the allelic heterogeneity and phenotypic diversity in CBFB-related cleidocranial dysplasia
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Linguo Franca: an automated framework to anonymize, translate and summarize clinical reports in HPO format
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