PuSH - Publication Server of Helmholtz Zentrum München

11 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.
Diets, I.J.* et al.: De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism. Am. J. Hum. Genet. 104, 758-766 (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.
Bramswig, N.C.* et al.: Identification of new TRIP12 variants and detailed clinical evaluation of individuals with non-syndromic intellectual disability with or without autism. Hum. Genet. 136, 179-192 (2017)
6.
Bramswig, N.C.* et al.: Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Hum. Genet. 136, 821-834 (2017)
7.
Lessel, D.* et al.: De novo missense mutations in DHX30 impair global translation and cause a neurodevelopmental disorder. Am. J. Hum. Genet. 101, 716-724 (2017)
8.
Witteveen, J.S.* et al.: Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity. Nat. Genet. 48, 877-887 (2016)
9.
Bramswig, N.C.* et al.: ‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband syndromes. Hum. Genet. 134, 1089-1097 (2015)
10.
Hempel, M.* et al.: De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment. Am. J. Hum. Genet. 97, 493-500 (2015)
11.
Kuechler, A.* et al.: De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: Expanding the mutational and clinical spectrum. Hum. Genet. 134, 97-109 (2015)