Kolexia
Nambot Sophie Génétique médicale
Nambot Sophie
Génétique médicale
Hôpital les Chanaux
Mâcon, France
115 Activités
170 Followers
Scientifique
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Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Prédisposition génétique à une maladie Épilepsie Malformations multiples Maladies rares Malformations Tumeurs du sein Perte d'audition Cardiopathies congénitales

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
Tran Mau Them Frederic
Tran Mau Them Frederic
Hôpital François Mitterrand, Dijon, France
Moutton Sebastien
Moutton Sebastien
Msp Bordeaux Bagatelle, Talence, France

Industries

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AstraZeneca
3 collaboration(s)
Dernière en 2023
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Dernières activités

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MOSAÏQUE: Screening for Chromosomal Microarrangements by CGH-array in Developmental Anomalies of the Skin Suggestive of Mosaicism. National Multicentre Descriptive Study.
Essai Clinique (CHU Dijon-Bourgogne)   20 février 2024
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Clinical genetics   29 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
ESALIT Study ((Efficacy- Safety-Lithium-TBR1): an open-label evaluation of lithium carbonate in patients with TBR1-related neurocognitive disorders: a 24-month multi-centre pilot study
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
DNA methylation suggesting the extension of the clinical spectrum of the SETD2-related disorders to a syndromic multiple tumor phenotype
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Interest of exome sequencing in non-syndromic specific learning disorders: a French pilot study
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Exome sequencing in the etiologic assessment of the stroke of the young
Abstracts from the World Congress of Neurology (WCN 2023)   01 décembre 2023
Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants.
American journal of medical genetics. Part A   23 octobre 2023
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
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Research square   29 septembre 2023