Kolexia
Dieterich Klaus
Génétique médicale
Hôpital Nord Grenoble
La Tronche, France
102 Activités
79 Followers

Scientifique
Digital
Production scientifique
Activités par an
Expertise
Sujets de recherche
{{person.topmesh1.name}} Arthrogrypose Déficience intellectuelle Malformations multiples Délétion de segment de chromosome Prédisposition génétique à une maladie Maladies neuromusculaires Malformations crâniofaciales Hémopathies Maladies vestibulaires

Industries

Sanofi
3 collaboration(s)
Dernière en 2020
Kyowa Kirin
1 collaboration(s)
Dernière en 2022
Novartis
1 collaboration(s)
Dernière en 2022
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{{person.topindus4.tot}} collaboration(s)
Dernière en {{person.topindus4.last}}

Dernières activités

Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.
Scientific reports   28 janvier 2024
OPALE: Observatoire Des Patients Atteints de Laminopathies et Emerinopathies (Observatory for PAtients With Laminopathies and Emerinopathies)
Essai Clinique (Hôpital Pitie Salpetriere)   13 décembre 2023
#HappeningNow Prof.... - German International University -GIU - Facebook
Facebook   05 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
Wir gratulieren unserem... - Reiterjournal Baden-Württemberg - Facebook
Facebook   03 septembre 2023
Speech therapy needs in a French cohort of children with arthrogryposis multiplex congenita
Abstracts from the 35th Annual Meeting of the European Academy of Childhood Disability (EACD), Ljubljana, Slovenia, 24–27 May 2023   18 mai 2023
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral-spectrum
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Weill-Marchesani syndrome: natural history and genotype-phenotype correlation from 18 cases
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference   01 mai 2023
Diagnostic work-up and phenotypic characteristics of a family with variable severity of distal arthrogryposis type 2B (Sheldon-Hall syndrome) and TNNT3 pathogenic variant.
Frontiers in genetics   09 mars 2023
AMUSE: Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation
Essai Clinique (CHU Grenoble)   03 janvier 2023