PuSH - Publication Server of Helmholtz Zentrum München

7 Records found.
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1.
Blok, L.S.* et al.: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018). Nat. Commun. 10:883 (2019)
2.
Hellwig, M.* et al.: TCF4 (E2-2) harbors tumor suppressive functions in SHH medulloblastoma. Acta Neuropathol. 137, 657-673 (2019)
3.
Snijders Blok, L.* et al.: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language (vol 9, 4619, 2018). Nat. Commun. 10:2079 (2019)
4.
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)
5.
Reuter, M.S.* et al.: Diagnostic yield and novel candidate genes by exome sequencing in 152 consanguineous families with neurodevelopmental disorders. JAMA psychiatry 74, 293-299 (2017)
6.
Kuechler, A.* et al.: Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome. Eur. J. Hum. Genet. 23, 753-760 (2014)
7.
Rauch, A.* et al.: Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: An exome sequencing study. Lancet 380, 1674-1682 (2012)