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Results 1 to 25 of 3936

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Developing predictive molecular maps of human disease through community-based modelingDERRY, Jonathan M. J; MANGRAVITE, Lara M; FRIEND, Stephen H et al.Nature genetics. 2012, Vol 44, Num 2, pp 127-130, issn 1061-4036, 4 p.Article

Exome sequencing and the genetic basis of complex traitsKIEZUN, Adam; GARIMELLA, Kiran; HULTMAN, Christina M et al.Nature genetics. 2012, Vol 44, Num 6, pp 623-630, issn 1061-4036, 8 p.Article

Leveraging models of cell regulation and GWAS data in integrative network-based association studiesCALIFANO, Andrea; BUTTE, Atul J; FRIEND, Stephen et al.Nature genetics. 2012, Vol 44, Num 8, pp 841-847, issn 1061-4036, 7 p.Article

A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese populationTANIKAWA, Chizu; URABE, Yuji; MATSUO, Keitaro et al.Nature genetics. 2012, Vol 44, Num 4, pp 430-434, issn 1061-4036, 5 p.Article

A low-frequency variant at 8q24.21 is strongly associated with risk of oligodendroglial tumors and astrocytomas with IDH1 or IDH2 mutationJENKINS, Robert B; YUANYUAN XIAO; BRACCI, Paige et al.Nature genetics. 2012, Vol 44, Num 10, pp 1122-1125, issn 1061-4036, 4 p.Article

A model-based approach for analysis of spatial structure in genetic dataYANG, Wen-Yun; NOVEMBRE, John; ESKIN, Eleazar et al.Nature genetics. 2012, Vol 44, Num 6, pp 725-731, issn 1061-4036, 7 p.Article

Amplification of siRNA in Caenorhabditis elegans generates a transgenerational sequence-targeted histone H3 lysine 9 methylation footprintSAM GUOPING GU; PAK, Julia; SHOUHONG GUANG et al.Nature genetics. 2012, Vol 44, Num 2, pp 157-164, issn 1061-4036, 8 p.Article

Ascorbic acid prevents loss of Dlk1-Dio3 imprinting and facilitates generation of all―iPS cell mice from terminally differentiated B cellsSTADTFELD, Matthias; APOSTOLOU, Effie; PARK, Peter J et al.Nature genetics. 2012, Vol 44, Num 4, pp 398-405, issn 1061-4036, 8 p.Article

BAP 1 loss defines a new class of renal cell carcinomaPENA-LLOPIS, Samuel; VEGA-RUBIN-DE-CELIS, Silvia; KINCH, Lisa et al.Nature genetics. 2012, Vol 44, Num 7, pp 751-759, issn 1061-4036, 9 p.Article

Bayesian method to predict individual SNP genotypes from gene expression dataSCHADT, Eric E; WOO, Sangsoon; KE HAO et al.Nature genetics. 2012, Vol 44, Num 5, pp 603-608, issn 1061-4036, 6 p.Article

Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastomaDISKIN, Sharon J; CAPASSO, Mario; JAGANNATHAN, Jayanti et al.Nature genetics. 2012, Vol 44, Num 10, pp 1126-1130, issn 1061-4036, 5 p.Article

De novo assembly and genotyping of variants using colored de Bruijn graphsIQBAL, Zamin; CACCAMO, Mario; TURNER, Isaac et al.Nature genetics. 2012, Vol 44, Num 2, pp 226-232, issn 1061-4036, 7 p.Article

Dense fine-mapping study identifies new susceptibility loci for primary biliary cirrhosisLIU, Jimmyz; ALMARRI, Mohameda; DONALDSON, Peter T et al.Nature genetics. 2012, Vol 44, Num 10, pp 1137-1141, issn 1061-4036, 5 p.Article

Detectable clonal mosaicism from birth to old age and its relationship to cancerLAURIE, Cathyc; ALAURIE, Cecelia; QINGYI WEI et al.Nature genetics. 2012, Vol 44, Num 6, pp 642-650, issn 1061-4036, 9 p.Article

Dominant missense mutations in ABCC9 cause Cantú syndromeHARAKALOVA, Magdalena; VAN HARSSEL, Jeske J. T; SHEARS, Debbie et al.Nature genetics. 2012, Vol 44, Num 7, pp 793-796, issn 1061-4036, 4 p.Article

Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosisCHIANG, Pei-Wen; JUAN WANG; YANLING CHEN et al.Nature genetics. 2012, Vol 44, Num 9, pp 972-974, issn 1061-4036, 3 p.Article

Genome-wide association study identifies a susceptibility locus for thyrotoxic periodic paralysis at 17q24.3CHEUNG, Ching-Lung; LAU, Kam-Shing; WOO, Yu-Cho et al.Nature genetics. 2012, Vol 44, Num 9, pp 1026-1029, issn 1061-4036, 4 p.Article

Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic strokeNature genetics. 2012, Vol 44, Num 3, pp 328-333, issn 1061-4036, 6 p.Article

Hereditary mixed polyposis syndrome is caused by a 40-kb upstream duplication that leads to increased and ectopic expression of the BMP antagonist GREM1JAEGER, Emma; LEEDHAM, Simon; EAST, James et al.Nature genetics. 2012, Vol 44, Num 6, pp 699-703, issn 1061-4036, 5 p.Article

Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysmLINDSAY, Mark E; SCHEPERS, Dorien; BJEDA, Djahita et al.Nature genetics. 2012, Vol 44, Num 8, pp 922-927, issn 1061-4036, 6 p.Article

Mapping cis- and trans-regulatory effects across multiple tissues in twinsGRUNDBERG, Elin; SMALL, Kerrin S; NISBETT, James et al.Nature genetics. 2012, Vol 44, Num 10, pp 1084-1089, issn 1061-4036, 6 p.Article

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathwaysSTOLK, Lisette; PERRY, John R. B; ESKO, Tõnu et al.Nature genetics. 2012, Vol 44, Num 3, pp 260-268, issn 1061-4036, 9 p.Article

Multiple apical plasma membrane constituents are associated with susceptibility to meconium ileus in individuals with cystic fibrosisLEI SUN; ROMMENS, Johanna M; ZELENIKA, Diana et al.Nature genetics. 2012, Vol 44, Num 5, pp 562-569, issn 1061-4036, 8 p.Article

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophySARPARANTA, Jaakko; HARALD JONSON, Per; RAHEEM, Olayinka et al.Nature genetics. 2012, Vol 44, Num 4, pp 450-455, issn 1061-4036, 6 p.Article

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degenerationKOENEKOOP, Robert K; HUI WANG; SCHWARTZENTRUBER, Jeremy et al.Nature genetics. 2012, Vol 44, Num 9, pp 1035-1039, issn 1061-4036, 5 p.Article

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