PuSH - Publication Server of Helmholtz Zentrum München

9 Records found.
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1.
Bramswig, N.C.* et al.: Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Hum. Genet. 137, 753-768 (2018)
2.
Lessel, D.* et al.: BCL11B mutations in patients affected by a neurodevelopmental disorder with reduced type 2 innate lymphoid cells. Brain 141, 2299-2311 (2018)
3.
Vasileiou, G.* et al.: Mutations in the BAF-complex subunit DPF2 are associated with coffin-siris syndrome. Am. J. Hum. Genet. 102, 468-479 (2018)
4.
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)
5.
Bramswig, N.C.* et al.: Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin–Siris syndrome-like phenotype. Hum. Genet. 136, 297-305 (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.
Parenti, I.* et al.: Mutations in chromatin regulators functionally link Cornelia de Lange syndrome and clinically overlapping phenotypes. Hum. Genet. 136, 307-320 (2017)
8.
Bramswig, N.C.* et al.: Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes. Hum. Genet. 134, 553-568 (2015)
9.
Bramswig, N.C.* et al.: ‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband syndromes. Hum. Genet. 134, 1089-1097 (2015)