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Personalized medicine for rare neurogenetic disorders: can we make it happen?

Rare neurogenetic disorders are collectively common, affecting 3% of the population, and often manifest with complex multiorgan comorbidity. With advances in genetic, -omics, and computational analysis, more children can be diagnosed and at an earlier age. Innovations in translational research facil...

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Detalles Bibliográficos
Autores principales: van Eeghen, Agnies M., Bruining, Hilgo, Wolf, Nicole I., Bergen, Arthur A., Houtkooper, Riekelt H., van Haelst, Mieke M., van Karnebeek, Clara D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958924/
https://www.ncbi.nlm.nih.gov/pubmed/35332073
http://dx.doi.org/10.1101/mcs.a006200