Kolexia
Boucher Elise Génétique médicale
Boucher Elise
Génétique médicale
Hôpital Saint-Jacques de Besançon
Besançon, France
49 Activités
0 Followers
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{{person.topmesh1.name}} Malformations multiples Déficience intellectuelle Hémopathies Maladies vestibulaires Prédisposition génétique à une maladie Eczéma atopique Épilepsie Malformations Encéphalopathies

Collaborateurs

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Van Maldergem Lionel
Van Maldergem Lionel
Hôpital Jean-Minjoz, Besançon, France
Piard Juliette
Piard Juliette
Hôpital Jean-Minjoz, Besançon, France
Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France
Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France

Industries

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Alexion
1 collaboration(s)
Dernière en 2019
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Dernières activités

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Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome.
Molecular psychiatry   29 novembre 2023
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
European journal of human genetics : EJHG   23 octobre 2023
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
American journal of medical genetics. Part A   23 octobre 2023
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Research square   29 septembre 2023
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
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature.
Journal of medical genetics   16 août 2023
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
European journal of human genetics : EJHG   21 juin 2023
Investigating genotype-to-phenotype correlation in CHARGE syndrome by deep phenotyping and multiparametric clustering.
Clinical genetics   26 mai 2023
Congenital hydrocephalus: new Mendelian mutations and evidence for oligogenic inheritance.
Human genomics   02 mars 2023
Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature.
Genetics in medicine : official journal of the American College of Medical Genetics   01 novembre 2022