Kolexia
Van-Gils Julien Génétique médicale
Van-Gils Julien
Génétique médicale
Ecole De Sages Femmes
Bordeaux, France
80 Activités
0 Followers
Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Syndrome de Rubinstein-Taybi Déficience intellectuelle Prédisposition génétique à une maladie Épilepsie Encéphalopathies Neurofibromatoses Crises épileptiques Ataxie Malformations crâniofaciales

Collaborateurs

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Lacombe Didier
Lacombe Didier
Camsp Polyvalent, Bordeaux, France
Goizet Cyril
Goizet Cyril
Hôpital Pellegrin, Bordeaux, France
Genevieve David
Genevieve David
Hôpital Arnaud de Villeneuve, Limoges, France
Fergelot Patricia
Fergelot Patricia
Hôpital Pellegrin, Bordeaux, France

Industries

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EXAFIELD
2 collaboration(s)
Dernière en 2022
Sanofi
2 collaboration(s)
Dernière en 2023
Takeda Pharmaceutical
1 collaboration(s)
Dernière en 2023
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{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

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Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients.
British journal of haematology   03 mars 2024
GENEPI: Diagnosis of RSTS: Identification of the Acetylation Profiles as Epigenetic Markers for Assessing Causality of CREBBP and EP300 Variants.
Essai Clinique (CHU Bordeaux)   16 janvier 2024
Intriguing link between fetal intracranial hemorrhage and X-linked recessive chondrodysplasia punctata.
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology   05 janvier 2024
Genotype-phenotype correlation and effects of bisphosphonates in rare forms of osteogenesis imperfecta : a retrospective study
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 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
Working towards the ERN ITHACA international consensus statement on the Diagnosis and Management in Rubinstein-Taybi Syndrome
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
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
Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: a series of 20 unreported individuals.
Genetics in medicine : official journal of the American College of Medical Genetics   17 octobre 2023
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature.
Journal of medical genetics   21 septembre 2023
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptions.
Brain : a journal of neurology   15 septembre 2023