Kolexia
Kury-Paulin Stephanie Endocrinologie
Kury-Paulin Stephanie
Endocrinologie
Chi Hc Site Rives Du Doubs Pontarlier
Pontarlier, France
42 Activités
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Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Ataxie Hypoglycémie Syndrome de Wolfram Diabète expérimental Diabète Diabète de type 2 Hyperthyroïdie Maladie de Basedow

Collaborateurs

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Perrin Virginie
Perrin Virginie
Chi Hc Site Rives Du Doubs Pontarlier, Pontarlier, France
Bezieau Stephane
Bezieau Stephane
Hôpital Hôtel-Dieu Nantes, Nantes, France
Cogné Benjamin
Cogné Benjamin
Hôpital Hôtel-Dieu Nantes, Nantes, France
Isidor Bertrand
Isidor Bertrand
Hôpital Hôtel-Dieu Nantes, Nantes, France

Industries

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Sanofi
10 collaboration(s)
Dernière en 2023
Lilly
10 collaboration(s)
Dernière en 2023
VitalAire
9 collaboration(s)
Dernière en 2023
B3TSI
8 collaboration(s)
Dernière en 2023

Dernières activités

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218.1 GABRA1-related disorders: from genetic to functional pathways
Epilepsia Congress 2023   29 novembre 2023
Delineation of the epileptic and neurodevelopmental phenotype associated with germline variants of the RORB gene
14\u003csup\u003eth\u003c/sup\u003e European Epilepsy Congress Geneva, Switzerland \u0026amp; Online 9–13 July 2022   16 septembre 2022
new case of Kaufman Oculocerebrofacial Syndrome caused by two new splicing variants in UBE3B.
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
mutations are also associated with familial forms of intellectual disability
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
compound inheritance of lethal lung developmental disorders due to disruption of the TBX-FGF pathway
Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference   01 octobre 2019
in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019
syndromic neurodevelopmental disorder is caused by de novo disruption of the proteasome regulatory subunit PSMD12
Abstracts from the 50th European Society of Human Genetics Conference   01 juillet 2019
Ubiquitin-proteasome system impairment and intellectual disability: the CUL4B example
Abstracts from the 51st European Society of Human Genetics (ESHG) Conference, in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)   01 juillet 2019
Genotype-phenotype correlation associated with de novo missense variants in TRRAP: from autism spectrum disorder to syndromic intellectual disability
Abstracts from the 51st European Society of Human Genetics (ESHG) Conference, in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)   01 juillet 2019
De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability
Abstracts from the 51st European Society of Human Genetics (ESHG) Conference, in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG)   01 juillet 2019