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101.
* et al.: A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am. J. Hum. Genet. 89, 168-175 (2011)
102.
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)
103.
Bown, M.J.* et al.: Abdominal aortic aneurysm is associated with a variant in low-density lipoprotein receptor-related protein 1. Am. J. Hum. Genet. 89, 619-627 (2011)
104.
Cichon, S.* et al.: Genome-wide association study identifies genetic variation in neurocan as a susceptibility factor for bipolar disorder. Am. J. Hum. Genet. 88, 372-381 (2011)
105.
Guelly, C.* et al.: Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I. Am. J. Hum. Genet. 88, 99-105 (2011)
106.
Hartig, M.B. et al.: Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Am. J. Hum. Genet. 89, 543-550 (2011)
107.
Johnson, T.* et al.: Blood pressure loci identified with a gene-centric array. Am. J. Hum. Genet. 89, 688-700 (2011)
108.
Lanktree, M.B.* et al.: Meta-analysis of dense genecentric association studies reveals common and uncommon variants associated with height. Am. J. Hum. Genet. 88, 6-18 (2011)
109.
Mayr, J.A.* et al.: Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway. Am. J. Hum. Genet. 89, 806-812 (2011)
110.
Senderek, J.* et al.: Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am. J. Hum. Genet. 88, 162-172 (2011)
111.
Teumer, A.* et al.: Genome-wide association study identifies four genetic loci associated with thyroid volume and goiter risk. Am. J. Hum. Genet. 88, 664-673 (2011)
112.
Bandah-Rozenfeld, D.* et al.: Mutations in IMPG2, encoding interphotoreceptor matrix proteoglycan 2, cause autosomal-recessive retinitis pigmentosa. Am. J. Hum. Genet. 87, 199-208 (2010)
113.
Lorenz-Depiereux, B. ; Schnabel, D.* ; Tiosano, D.* ; Häusler, G.* & Strom, T.M.: Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am. J. Hum. Genet. 86, 267-272 (2010)
114.
Nikopoulos, K.* et al.: Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy. Am. J. Hum. Genet. 86, 240-247 (2010)
115.
Schraders, M.* et al.: Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction. Am. J. Hum. Genet. 86, 604-610 (2010)
116.
Landi, M.T.* et al.: A genome-wide association study of lung cancer identifies a region of chromosome 5p15 associated with risk for adenocarcinoma. Am. J. Hum. Genet. 85, 679-691 (2009)
117.
Meisinger, C. et al.: A genome-wide association study identifies three loci associated with mean platelet volume. Am. J. Hum. Genet. 84, 66-71 (2009)
118.
Parry, D.A.* et al.: Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. Am. J. Hum. Genet. 84, 683-691 (2009)
119.
Thiadens, A.A.H.J.* et al.: Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am. J. Hum. Genet. 85, 240-247 (2009)
120.
Collin, R.W.* et al.: Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am. J. Hum. Genet. 83, 594-603 (2008)