PuSH - Publication Server of Helmholtz Zentrum München

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1.
Snijders Blok, L.* et al.: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language. Nat. Commun. 9:4619 (2018)
2.
Platzer, K.* et al.: GRIN2B encephalopathy: Novel findings on phenotype, variant clustering, functional consequences and treatment aspects. J. Med. Genet. 54, 460-470 (2017)