Comprehensive genomic analysis of patients with disorders of cerebral cortical development

Malformations of cortical development (MCDs) manifest with structural brain anomalies that lead to neurologic sequelae, including epilepsy, cerebral palsy, developmental delay, and intellectual disability. To investigate the underlying genetic architecture of patients with disorders of cerebral cort...

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Veröffentlicht in:Eur J Hum Genet
Hauptverfasser: Wiszniewski, Wojciech, Gawlinski, Pawel, Gambin, Tomasz, Bekiesinska-Figatowska, Monika, Obersztyn, Ewa, Antczak-Marach, Dorota, Akdemir, Zeynep Hande Coban, Harel, Tamar, Karaca, Ender, Jurek, Marta, Sobecka, Katarzyna, Nowakowska, Beata, Kruk, Malgorzata, Terczynska, Iwona, Goszczanska-Ciuchta, Alicja, Rudzka-Dybala, Mariola, Jamroz, Ewa, Pyrkosz, Antoni, Jakubiuk-Tomaszuk, Anna, Iwanowski, Piotr, Gieruszczak-Bialek, Dorota, Piotrowicz, Malgorzata, Sasiadek, Maria, Kochanowska, Iwona, Gurda, Barbara, Steinborn, Barbara, Dawidziuk, Mateusz, Castaneda, Jennifer, Wlasienko, Pawel, Bezniakow, Natalia, Jhangiani, Shalini N., Hoffman-Zacharska, Dorota, Bal, Jerzy, Szczepanik, Elzbieta, Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Springer International Publishing 2018
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6057976/
https://ncbi.nlm.nih.gov/pubmed/29706646
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-018-0137-z
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