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 TitleAuthors / EditorsDate
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Loss of VPS13C Function in Autosomal-Recessive Parkinsonism Causes Mitochondrial Dysfunction and Increases PINK1/Parkin-Dependent Mitophagy French Parkinson's Disease Genetics Study, International Parkinson's Disease Genomics Consortium 2016
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Diabetes Mellitus Is Associated With Reduced High-Density Lipoprotein Sphingosine-1-Phosphate Content and Impaired High-Density Lipoprotein Cardiac Cell Protection Brinck, Jonas; Thomas, Aurélien; Lauer, Estelle; Jornayvaz, François; ... Frias, Miguel 2016
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Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study Hou, Liping; Heilbronner, Urs; Degenhardt, Franziska; Kelsoe, John R; ... Schulze, Thomas G 2016
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Biased allelic expression in human primary fibroblast single cells Borel, Christelle; Ferreira Marinheiro, Pedro; Santoni, Federico; Delaneau, Olivier; ... Antonarakis, Stylianos 2015
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Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome Rivas, Manuel A; Pirinen, Matti; Conrad, Donald F; Lek, Monkol; ... MacArthur, Daniel G. 2015
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Prothrombin G20210A mutation and lower extremity peripheral arterial disease: a systematic review and meta-analysis Vazquez, F; Rodger, M; Carrier, M; Le Gal, G; ... Gandara, E 2015
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An integrated genomic-transcriptomic approach supports a role for the proto-oncogene BCL3 in atherosclerosis Marchetti, Giovanna; Girelli, Domenico; Zerbinati, Carlotta; Lunghi, Barbara; ... Martinelli, Nicola 2015
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Directional dominance on stature and cognition in diverse human populations Joshi, Peter K; Esko, Tonu; Polašek, Ozren; Wilson, James F. 2015
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Human genomics. The human transcriptome across tissues and individuals Melé, Marta; Ferreira, Pedro G; Reverter, Ferran; DeLuca, David S; ... Guigó, Roderic 2015
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Consequences of a deficit in vitamin B6 biosynthesis de novo for hormone homeostasis and root development in Arabidopsis Boycheva, Svetlana; Dominguez Laino, Ana; Rolcik, Jakub; Boller, Thomas Peter; Fitzpatrick, Thérésa Bridget 2015
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Targeted mutation of zebrafish fga models human congenital afibrinogenemia Fish, Richard; Di Sanza, Corinne; Neerman-Arbez, Marguerite 2014
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Liver environment and HCV replication affect human T-cell phenotype and expression of inhibitory receptors Kroy, Daniela C; Ciuffreda, Donatella; Cooperrider, Jennifer H; Tomlinson, Michelle; ... Lauer, Georg M 2014
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Phenotypic and genotypic characterisation of Staphylococcus aureus causing musculoskeletal infections Post, Virginia; Wahl, Peter; Uckay, Ilker; Ochsner, Peter; ... Moriarty, T Fintan 2014
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Genetic implication of a novel thiamine transporter in human hypertension International Consortium for Blood Pressure Genome-Wide Association Studies 2014
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A genomic perspective on a new bacterial genus and species from the Alcaligenaceae family, Basilea psittacipulmonis Whiteson, Katrine L; Hernandez, David; Lazarevic, Vladimir; Gaia, Nadia; ... Schrenzel, Jacques 2014
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International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients Hofer, Michael; Pillet, Pascal; Cochard, Marie-Madeleine; Berg, Stefan; ... Gattorno, Marco 2014
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Results from a multicentre international registry of familial Mediterranean fever: impact of environment on the expression of a monogenic disease in children Ozen, Seza; Demirkaya, Erkan; Amaryan, Gayane; Koné-Paut, Isabelle; ... Gattorno, Marco 2014
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Advancing research diagnostic criteria for Alzheimer's disease: the IWG-2 criteria Dubois, Bruno; Feldman, Howard H; Jacova, Claudia; Hampel, Harald; ... Cummings, Jeffrey L 2014
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Cis and trans effects of human genomic variants on gene expression Bryois, Julien; Buil Demur, Alfonso Alberto; Evans, David M; Kemp, John P; ... Dermitzakis, Emmanouil 2014
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Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31 Villanueva, Adda; Willer, Jason R; Bryois, Julien; Dermitzakis, Emmanouil; ... Davis, Erica E 2014
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