Kolexia
Masurel-Paulet Alice Pédiatrie
Masurel-Paulet Alice
Pédiatrie
Centre Hospitalier D'Amiens Salouël Site Sud
Salouël, France
97 Activités
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Scientifique
Digital
Production scientifique
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Malformations multiples Délétion de segment de chromosome Épilepsie Prédisposition génétique à une maladie Encéphalopathies Faciès Microcéphalie Atrophie

Collaborateurs

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Olivier-Faivre Laurence
Olivier-Faivre Laurence
Hôpital François Mitterrand, Dijon, France
Thauvin-Robinet Christel
Thauvin-Robinet Christel
Hôpital François Mitterrand, Dijon, France
Callier Patrick
Callier Patrick
Pôle de Biologie, Dijon, France
Thevenon Julien
Thevenon Julien
Hôpital Nord Grenoble, La Tronche, France

Industries

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Novartis
3 collaboration(s)
Dernière en 2022
Nutricia
1 collaboration(s)
Dernière en 2023
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Dernières activités

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Syndrome 48,XXYY et autres tétrasomies ou pentasomies des gonosomes chez le garçon
HAS Publications   10 octobre 2022
Haploinsuffiency of ARFGEF1 is associated with developmental delay, intellectual disability and epilepsy with variable expressivity
Abstracts from the 54th European Society of Human Genetics (ESHG) Conference   01 avril 2022
The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders.
Molecular genetics and metabolism reports   18 octobre 2021
Care management in a French cohort with Down syndrome from the AnDDI-Rares/CNSA study.
European journal of medical genetics   15 juillet 2021
Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity.
Genetics in medicine : official journal of the American College of Medical Genetics   10 juin 2021
The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
Integrated genome and transcriptome analyses solves about one third of the patients with rare developmental disorders and negative first-line molecular investigations
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference   01 décembre 2020
Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.
European journal of medical genetics   28 septembre 2020
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders.
Human genetics   12 mai 2020
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability.
Journal of medical genetics   10 avril 2020