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81.
Chan, Y.* et al.: Genome-wide analysis of body proportion classifies height-associated variants by mechanism of action and implicates genes important for skeletal development. Am. J. Hum. Genet. 96, 695-708 (2015)
82.
Haack, T.B. et al.: Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy. Am. J. Hum. Genet. 97, 163-169 (2015)
83.
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)
84.
Hempel, M.* et al.: De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment. Am. J. Hum. Genet. 97, 493-500 (2015)
85.
Powell, C.A.* et al.: TRMT5 mutations cause a defect in post-transcriptional modification of mitochondrial tRNA associated with multiple respiratory-chain deficiencies. Am. J. Hum. Genet. 97, 319-328 (2015)
86.
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)
87.
Wortmann, S.B.* et al.: CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder. Am. J. Hum. Genet. 96, 245-257 (2015)
88.
Zech, M. et al.: Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. Am. J. Hum. Genet. 96, 883-893 (2015)
89.
Chan, Y.* et al.: An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases. Am. J. Hum. Genet. 94, 437-452 (2014)
90.
Dusi, S.* et al.: Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation. Am. J. Hum. Genet. 94, 11-22 (2014)
91.
Ganesh, S.K.* et al.: Effects of long-term averaging of quantitative blood pressure traits on the detection of genetic associations. Am. J. Hum. Genet. 95, 49-65 (2014)
92.
Kapoor, A.* et al.: An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval. Am. J. Hum. Genet. 94, 854-869 (2014)
93.
Kopajtich, R. et al.: Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy. Am. J. Hum. Genet. 59, 708-720 (2014)
94.
Lange, L.A.* et al.: Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol. Am. J. Hum. Genet. 94, 233-245 (2014)
95.
Melchionda, L.* et al.: Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency. Am. J. Hum. Genet. 95, 315-325 (2014)
96.
Schulte, E.C. et al.: Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome. Am. J. Hum. Genet. 95, 85-95 (2014)
97.
Simino, J.* et al.: Gene-age interactions in blood pressure regulation: A large-scale investigation with the CHARGE, Global BPgen, and ICBP consortia. Am. J. Hum. Genet. 95, 24-38 (2014)
98.
Synofzik, M.* et al.: Absence of BiP co-chaperone DNAJC3 causes diabetes mellitus and multisystemic neurodegeneration. Am. J. Hum. Genet. 95, 689-697 (2014)
99.
Tragante, V.* et al.: Gene-centric meta-analysis in 87,736 individuals of European ancestry identifies multiple blood-pressure-related loci. Am. J. Hum. Genet. 94, 349-360 (2014)
100.
Wang, S.R.* et al.: Simulation of finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland. Am. J. Hum. Genet. 94, 710-720 (2014)
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