PuSH - Publication Server of Helmholtz Zentrum München

15 Records found.
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1.
Wagner, M. et al.: Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease. J. Inherit. Metab. Dis., accepted (2019)
2.
Umair, M. et al.: Homozygous XYLT2 variants as a cause of spondyloocular syndrome. Clin. Genet. 93, 913-918 (2017)
3.
Verma, S.B.* et al.: Chanarin-Dorfman syndrome with rare renal involvement. Br. J. Dermatol. 176, 545-548 (2017)
4.
Wang, L.* et al.: Evaluation of the interaction between LRRK2 and PARK16 loci in determining risk of Parkinson's disease: Analysis of a large multicenter study. Neurobiol. Aging 49, 217.e1-217.e4 (2017)
5.
Giehl, K.A.* et al.: Eight novel mutations confirm the role of AAGAB in punctate palmoplantar keratoderma type 1 (Buschke-Fischer-Brauer) and show broad phenotypic variability. Acta Derm.-Venereol. 96, 468-472 (2016)
6.
Kremer, L.S. et al.: Biallelic truncating mutations in TANGO2 cause infancy-onset recurrent metabolic crises with encephalocardiomyopathy. Am. J. Hum. Genet. 98, 358-362 (2016)
7.
Hadchouel, A.* et al.: Biallelic mutations of methionyl-tRNA synthetase cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island. Am. J. Hum. Genet. 96, 826-831 (2015)
8.
Poos, K.* et al.: Genomic heterogeneity of osteosarcoma - shift from single candidates to functional modules. PLoS ONE 10:e0123082 (2015)
9.
Schulte, E.C. et al.: Rare variants in β-Amyloid Precursor Protein (APP) and Parkinson's disease. Eur. J. Hum. Genet. 23, 1328-1333 (2015)
10.
Wang, L.* et al.: Large-scale assessment of polyglutamine repeat expansions in Parkinson disease. Neurology 85, 1283-1292 (2015)
11.
Schramm, K. et al.: Mapping the genetic architecture of gene regulation in whole blood. PLoS ONE 9:e93844 (2014)
12.
Giehl, K.A.* et al.: Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer. Am. J. Hum. Genet. 91, 754-759 (2012)
13.
Suhre, K. et al.: Human metabolic individuality in biomedical and pharmaceutical research. Nature 477, 54-60 (2011)
14.
Schormair, B. et al.: PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome. Nat. Genet. 40, 946-948 (2008)
15.
Giehl, K.* et al.: A gene locus responsible for the familial hair shaft abnormality pili annulati maps to chromosome 12q24.32-24.33. J. Invest. Dermatol. 123, 1073-1077 (2004)