Kolexia
Nizon Mathilde
Génétique médicale
Hôpital Hôtel-Dieu Nantes
Nantes, France
120 Activités
0 Followers

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{{person.topmesh1.name}} Déficience intellectuelle Épilepsie Microcéphalie Prédisposition génétique à une maladie Délétion de segment de chromosome Malformations multiples Troubles du développement du langage Hypotonie musculaire Malformations crâniofaciales

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Dernières activités

Penetrance, variable expressivity and monogenic neurodevelopmental disorders.
European journal of medical genetics   05 mars 2024
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay.
American journal of medical genetics. Part A   29 février 2024
L-serine treatment in patients with GRIN-related encephalopathy: A phase 2A, non-randomized study.
Brain : a journal of neurology   21 février 2024
Lessons from two series by physicians and caregivers' self-reported data in DDX3X-related disorders.
Molecular genetics & genomic medicine   30 janvier 2024
variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.
Life science alliance   05 janvier 2024
Prenatal-onset hypertrophic cardiomyopathy in 47 patients with RASopathies: understanding phenotype-genotype correlations for risk stratification, medical management and targeted therapies assessment through an international cohort study
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
Rare loss-of-function variants in DOCK4 lead to neurodevelopmental delay
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Optical Genome Mapping. Contribution to the Etiological Diagnosis of Developmental disorders : experience of the Nantes Genetic Department on over 60 individuals
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.
The Journal of clinical investigation   14 novembre 2023