Kolexia
Doco-Fenzy Martine Génétique médicale
Doco-Fenzy Martine
Génétique médicale
Maison Blanche
Reims, France
119 Activités
0 Followers
Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Délétion de segment de chromosome Malformations multiples Maladies chromosomiques Trisomie Épilepsie Microcéphalie Maladies génétiques congénitales Fente palatine

Collaborateurs

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Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France
Poirsier Celine
Poirsier Celine
Maison Blanche, Reims, France
Odent Sylvie
Odent Sylvie
Hôpital Sud Rennes, Rennes, France

Industries

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Sanofi
1 collaboration(s)
Dernière en 2019
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Dernières activités

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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
3q29 duplications: A cohort of 46 patients and a literature review.
American journal of medical genetics. Part A   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
Assessment of Mendelian and risk-factor genes in Alzheimer disease: A prospective nationwide clinical utility study and recommendations for genetic screening.
Genetics in medicine : official journal of the American College of Medical Genetics   24 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
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
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
Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France.
European journal of medical genetics   14 septembre 2023
Integrating RNA-Seq into genome sequencing workflow enhances the analysis of structural variants causing neurodevelopmental disorders.
Journal of medical genetics   26 juillet 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
European journal of human genetics : EJHG   21 juin 2023