PuSH - Publication Server of Helmholtz Zentrum München

27 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.
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)
3.
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)
4.
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)
5.
Dand, N.* et al.: Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling. Hum. Mol. Genet. 26, 4301-4313 (2017)
6.
Kuechler, A.* et al.: Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: A recognizable condition. Eur. J. Hum. Genet. 25, 183-191 (2017)
7.
Pasutto, F.* et al.: Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1. Nat. Commun. 8:15466 (2017)
8.
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)
9.
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)
10.
Stuart, P.E.* et al.: Genome-wide association analysis of psoriatic arthritis and cutaneous psoriasis reveals differences in their genetic architecture. Am. J. Hum. Genet. 97, 816-836 (2015)
11.
Apel, M.* et al.: Variants in RUNX3 contribute to susceptibility to psoriatic arthritis, exhibiting further common ground with ankylosing spondylitis. Arthritis Rheum. 65, 1224-1231 (2013)
12.
Frankenberger, M. et al.: A defect of CD16-positive monocytes can occur without disease. Immunobiology 218, 169-174 (2013)
13.
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)
14.
Tsoi, L.C.* et al.: Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat. Genet. 44, 1341-1348 (2012)
15.
Abou Jamra, R.* et al.: Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am. J. Hum. Genet. 88, 788-795 (2011)
16.
Erdmann, J.* et al.: Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23. Eur. Heart J. 32, 158-168 (2011)
17.
Jacquemont, S.* et al.: Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature 478, 97-102 (2011)
18.
Hüffmeier, U.* et al.: Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat. Genet. 42, 996-999 (2010)
19.
Teupser, D.* et al.: Genetic regulation of serum phytosterol levels and risk of coronary artery disease. Circ. Cardiovasc. Genet. 3, 331-339 (2010)
20.
Seedorf, H.* et al.: Amelogenesis imperfecta in a new animal model - a mutation in chromosome 5 (human 4q21). J. Dent. Res. 83, 608-812 (2004)