Kolexia
Moutton Sebastien Génétique médicale
Moutton Sebastien
Génétique médicale
Msp Bordeaux Bagatelle
Talence, France
154 Activités
0 Followers
Scientifique
Digital
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Expertise
Sujets de recherche
{{person.topmesh1.name}} Déficience intellectuelle Prédisposition génétique à une maladie Malformations multiples Épilepsie Microcéphalie Encéphalopathies Faciès Maladies rares Malformations

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
Nambot Sophie
Nambot Sophie
Hôpital les Chanaux, Mâcon, France

Industries

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Sanofi
1 collaboration(s)
Dernière en 2018
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Dernières activités

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A recurrent missense variant in the E3 ubiquitin ligase substrate recognition subunit FEM1B causes a rare syndromic neurodevelopmental disorder
Genetics in medicine : official journal of the American College of Medical Genetics   07 mars 2024
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
American journal of human genetics   08 janvier 2024
OMIXCARE: OMICS technologiessolved about 33% of the patientswith heterogeneous rareneuro-developmental disordersand negative exome sequencingresults and identified 13%additional candidate variants
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter review
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Prenatal exome sequencing in corpus callosum anomalies: lessons from a cohort of 209 fetuses
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 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
Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.
Research square   29 septembre 2023
Growth charts in DYRK1A syndrome.
American journal of medical genetics. Part A   22 septembre 2023
Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
Journal of medical genetics   16 août 2023
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.
Brain : a journal of neurology   03 août 2023