Kolexia
Becmeur-Lefebvre Mathilde Génétique médicale
Becmeur-Lefebvre Mathilde
Génétique médicale
Centre Hospitalier Régional D'Orléans Hôpital de La Source
Orléans, France
57 Activités
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Sujets de recherche
{{person.topmesh1.name}} Malformations Déficience intellectuelle Malformations multiples Épilepsie Malformations crâniofaciales Encéphalopathies Hydrocéphalie Retard mental lié à l'X Dysostoses

Collaborateurs

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Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Thauvin-Robinet Christel
Thauvin-Robinet Christel
Hôpital François Mitterrand, Dijon, France
Thevenon Julien
Thevenon Julien
Hôpital Nord Grenoble, La Tronche, France
Mosca Boidron Anne Laure
Mosca Boidron Anne Laure
Pôle de Biologie, Dijon, France

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Dernières activités

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Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants.
American journal of human genetics   14 novembre 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
European journal of human genetics : EJHG   21 juin 2023
The temporal balance between self-renewal and differentiation of human neural stem cells requires the amyloid precursor protein.
Science advances   16 juin 2023
First reports of fetal SMARCC1 related hydrocephalus.
European journal of medical genetics   05 juin 2023
Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants.
medRxiv : the preprint server for health sciences   26 mai 2023
Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.
Genetics in medicine : official journal of the American College of Medical Genetics   20 avril 2023
Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome).
Prenatal diagnosis   23 mars 2023
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genetics in medicine : official journal of the American College of Medical Genetics   05 mars 2023
In mice and humans, brain microvascular contractility matures postnatally.
Brain structure & function   16 novembre 2022
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genetics in medicine : official journal of the American College of Medical Genetics   18 mai 2022