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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.
Flannick, J.* et al.: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci. Data 5:180002 (2018)
3.
Reinthaler, E.M.* et al.: TPP2 mutation associated with sterile brain inflammation mimicking MS. Neurol. Genet. 4:e285 (2018)
4.
Repp, B. et al.: Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: Is riboflavin supplementation effective? Orphanet J. Rare Dis. 13:120 (2018)
5.
Treise, I. et al.: Defective immuno- and thymoproteasome assembly causes severe immunodeficiency. Sci. Rep. 8:5975 (2018)
6.
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)
7.
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)
8.
Bramswig, N.C.* et al.: Heterozygous HNRNPU variants cause early onset epilepsy and severe intellectual disability. Hum. Genet. 136, 821-834 (2017)
9.
Dennert, N.* et al.: De novo microdeletions and point mutations affecting SOX2 in three individuals with intellectual disability but without major eye malformations. Am. J. Med. Genet. A 173, 435-443 (2017)
10.
Flannick, J.* et al.: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls. Sci. Data 4:170179 (2017)
11.
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)
12.
Manning, A.* et al.: A low-frequency inactivating Akt2 variant enriched in the Finnish population is associated with fasting insulin levels and type 2 diabetes risk. Diabetes 66, 2019-2032 (2017)
13.
Mayosi, B.M.* et al.: Identification of cadherin 2 (CDH2) mutations in arrhythmogenic right ventricular cardiomyopathy. Circ. Cardiovasc. Genet. 10:e001605 (2017)
14.
Redler, S.* et al.: Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID. Eur. J. Hum. Genet. 25, 889-893 (2017)
15.
Auer-Grumbach, M.* et al.: Rare variants in MME, encoding metalloprotease neprilysin, are linked to late-onset autosomal-dominant axonal polyneuropathies. Am. J. Hum. Genet. 99, 607-623 (2016)
16.
Brenner, D.* et al.: NEK1 mutations in familial amyotrophic lateral sclerosis. Brain 139:e28 (2016)
17.
Diener, S. et al.: Exome sequencing identifies a nonsense mutation in Fam46a associated with bone abnormalities in a new mouse model for skeletal dysplasia. Mamm. Genome 27, 111-121 (2016)
18.
Ferreira, P.G.* et al.: Sequence variation between 462 human individuals fine-tunes functional sites of RNA processing. Sci. Rep. 6, 32406 (2016)
19.
Fuchs, H. et al.: The first Scube3 mutant mouse line with pleiotropic phenotypic alterations. Genes Genomes Genetics G3 6, 4035-4046 (2016)
20.
Fuchsberger, C.* et al.: The genetic architecture of type 2 diabetes. Nature 536, 41-47 (2016)