GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disorders

Intellectual disability with or without manifestations of autism and/or epilepsy affects 1–2% of the population, and it is estimated that more than 30–50% of these cases have a single genetic cause. More than 1000 genes and recurrent chromosomal abnormalities are involved in these genetic forms of n...

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Detalles Bibliográficos
Autores principales: Burger, Pauline, Colin, Florent, Strehle, Axelle, Mazzucotelli, Timothée, Collot, Nicole, Coutelle, Romain, Durand, Benjamin, Bouman, Arianne, Landau Prat, Daphna, Kleefstra, Tjitske, Parrend, Pierre, Piton, Amélie, Koolen, David A., Mandel, Jean-Louis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Vienna 2022
Materias:
Neurology and Preclinical Neurological Studies - Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9702708/
https://www.ncbi.nlm.nih.gov/pubmed/36436153
http://dx.doi.org/10.1007/s00702-022-02569-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9702708/
https://www.ncbi.nlm.nih.gov/pubmed/36436153
http://dx.doi.org/10.1007/s00702-022-02569-3

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