PuSH - Publication Server of Helmholtz Zentrum München

8 Records found.
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1.
Piekutowska-Abramczuk, D.* et al.: NDUFB8 mutations cause mitochondrial complex I deficiency in individuals with leigh-like encephalomyopathy. Am. J. Hum. Genet. 102, 460-467 (2018)
2.
Maas, R.R.* et al.: Progressive deafness–dystonia due to SERAC1 mutations: A study of 67 cases. Ann. Neurol. 82, 1004-1015 (2017)
3.
Pronicka, E.* et al.: A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients. J. Inherit. Metab. Dis. 40, 853-860 (2017)
4.
Rokicki, D.* et al.: 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency. Clin. Chim. Acta 471, 95-100 (2017)
5.
Wu, X.* et al.: A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23. Hum. Mol. Genet. 21, 456-462 (2012)
6.
McKay, J.D.* et al.: A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium. PLoS Genet. 7:e1001333 (2011)
7.
Purdue, M.P.* et al.: Genome-wide association study of renal cell carcinoma identifies two susceptibility loci on 2p21 and 11q13.3. Nat. Genet. 43, 60-65 (2011)
8.
Truong, T.* et al.: International Lung Cancer Consortium: Coordinated association study of 10 potential lung cancer susceptibility variants. Carcinogenesis 31, 625-633 (2010)