Kolexia
Cogné Benjamin
Pharmacien
Hôpital Hôtel-Dieu Nantes
Nantes, France
142 Activités
90 Followers

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{{person.topmesh1.name}} Déficience intellectuelle Épilepsie Microcéphalie Hypotonie musculaire Troubles du développement du langage Prédisposition génétique à une maladie Crises épileptiques Malformations multiples Ataxie

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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
Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene in neurodevelopmental proteasomopathies.
medRxiv : the preprint server for health sciences   26 janvier 2024
variants underlying X-linked intellectual disability disrupt protein function via distinct mechanisms.
Life science alliance   05 janvier 2024
Role of CACNG2 variants in human pathology
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
De novo KCNA6 variants with attenuated KV1.6 channel deactivation in patients with epilepsy
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
Biallelic variants in INTS11 are associated with a novel complex neurological disorder
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
P428: De novo truncating variants in ZNF865: A putative cause of a neurodevelopmental disorder
2024 ACMG Annual Clinical Genetics Meeting   01 janvier 2024
Further phenotypical delineation of DLG3 related Intellectual developmental disorder: description of 9 new cases
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024
RBMX2, a novel candidate gene for an X-linked neurodevelopmental disorder
Abstracts from the 56th European Society of Human Genetics (ESHG) Conference   01 janvier 2024