Kolexia
Piard Juliette Génétique médicale
Piard Juliette
Génétique médicale
Hôpital Jean-Minjoz
Besançon, France
97 Activités
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Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Faciès Encéphalopathies Épilepsie Craniosynostoses Contracture Chorée Syndrome de Noonan

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Van Maldergem Lionel
Van Maldergem Lionel
Hôpital Jean-Minjoz, Besançon, France
Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France
Heron-Bruneau Delphine
Heron-Bruneau Delphine
Hôpital Pitie Salpetriere, Paris, France

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Dernières activités

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Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
European journal of medical genetics   05 mars 2024
Allelic heterogeneity in a patient with postzygotic MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities.
Clinical genetics   20 février 2024
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study.
European journal of human genetics : EJHG   15 février 2024
A new family with an autosomal dominant transmission of GJB6 non-syndromic deafness
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Al Kaissi syndrome : a novel cohort of 15 patients with biallelic variations in the CDK10 gene : functional analysis, phenotypic description and review of the literature
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Clinical phenotype of Noonan syndrome due to RRAS2 mutations: 6 new cases and review of the literature
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes.
Brain : a journal of neurology   01 décembre 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
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