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 TitleAuthors / EditorsDate
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Phenotypes in Swiss patients with familial ALS carrying TARDBP mutations Czell, D; Andersen, P M; Morita, M; Neuwirth, C; ... Weber, M 2013
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Leader genes in osteogenesis: a theoretical study Orlando, Bruno; Giacomelli, Luca; Ricci, Massimiliano; Barone, Antonio; Covani, Ugo 2013
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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study Keil, Stefanie; Anjema, Karen; van Spronsen, Francjan J; Lambruschini, Nilo; ... Blau, Nenad 2013
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Penetrating or stricturing diseases are the major determinants of time to first and repeat resection surgery in Crohn's disease Pittet, Valerie; Rogler, Gerhard; Michetti, Pierre; Fournier, Nicolas; ... Froehlich, Florian 2013
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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders Travaglini, Lorena; Brancati, Francesco; Silhavy, Jennifer; Iannicelli, Miriam; ... Gleeson, Joseph G 2013
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A genome-wide association study of resistance to HIV infection in highly exposed uninfected individuals with hemophilia A. Lane, Jérôme; Boehlen, Françoise 2013
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Toward a NOTCH1/FBXW7/RAS/PTEN-based oncogenetic risk classification of adult T-cell acute lymphoblastic leukemia: a Group for Research in Adult Acute Lymphoblastic Leukemia study Trinquand, Amélie; Tanguy-Schmidt, Aline; Ben Abdelali, Raouf; Lambert, Jérôme; ... Asnafi, Vahid 2013
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Picornavirus and enterovirus diversity with associated human diseases Tapparel, Caroline; Siegrist, Fredy; Petty Ii, Thomas John; Kaiser, Laurent 2013
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Fatty acid amide hydrolase deficiency enhances intraplaque neutrophil recruitment in atherosclerotic mice Lenglet, Sébastien; Thomas, Aurélien; Soehnlein, Oliver; Montecucco, Fabrizio; ... Steffens, Sabine 2013
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Molecular imaging reveals rapid reduction of endothelial activation in early atherosclerosis with apocynin independent of antioxidative properties Khanicheh, Elham; Qi, Yue; Xie, Aris; Mitterhuber, Martina; ... Kaufmann, Beat A 2013
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Genomic variation and its impact on gene expression in Drosophila melanogaster Massouras, Andreas; Waszak, Sebastian M; Albarca-Aguilera, Monica; Hens, Korneel; ... Deplancke, Bart 2012
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Genetic and epigenetic contribution to complex traits Kilpinen, Leena Helena; Dermitzakis, Emmanouil 2012
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Sex-biased genetic effects on gene regulation in humans Dima, Antigoni; Nica, Alexandra; Montgomery, Stephen; Stranger, Barbara E; ... Dermitzakis, Emmanouil 2012
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Extensive natural variation for cellular hydrogen peroxide release is genetically controlled Attar Cohen, Homa; Bedard, Karen; Migliavacca Voeffray, Eugenia Linda; Gagnebin, Maryline; ... Antonarakis, Stylianos 2012
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The Brisbane Systems Genetics Study: genetical genomics meets complex trait genetics Powell, Joseph E; Henders, Anjali K; McRae, Allan F; Caracella, Anthony; ... Montgomery, Grant W 2012
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Epithelial ingrowth cells after LASIK/ALTK (automated lamellar therapeutic keratoplasty): are they corneal epithelial stem cells? Nicolas, Michael; Abouzeid, Hana; Deprez, Manuel; Hafezi, Farhad; ... Majo, François 2012
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Cellular genomics for complex traits Dermitzakis, Emmanouil 2012
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Reversal of cocaine-evoked synaptic potentiation resets drug-induced adaptive behaviour Pascoli, Vincent Jean; Turiault, Marc; Luescher, Christian 2012
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Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers Anheim, M; Elbaz, A; Lesage, S; Durr, A; ... Brice, A 2012
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A single-nucleotide substitution mutator phenotype revealed by exome sequencing of human colon adenomas Nikolaev, Sergey Igorievich; Sotiriou, Sotirios K; Pateras, Ioannis S; Santoni, Federico; ... Halazonetis, Thanos 2012
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Genomic determinants in the phenotypic variability of Down syndrome Letourneau, Audrey; Antonarakis, Stylianos 2012
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Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion Klopocki, Eva; Lohan, Silke; Doelken, Sandra C; Stricker, Sigmar; ... Mundlos, Stefan 2012
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Homozygous deletion of a gene-free region of 4p15 in a child with multiple anomalies: could biallelic loss of conserved, non-coding elements lead to a phenotype? Makrythanasis, Periklis; Gimelli, Stefania; Sloan Bena, Frédérique; Dahoun, Sophie; ... Bottani, Armand 2012
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A systematic survey of loss-of-function variants in human protein-coding genes MacArthur, Daniel G; Montgomery, Stephen; Dermitzakis, Emmanouil 2012
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Gene-environment interactions of selected pharmacogenes in arterial hypertension Bochud, Murielle; Guessous, Idris 2012
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A short amino-terminal part of Arabidopsis phytochrome A induces constitutive photomorphogenic response Viczián, András; Ádám, Éva; Wolf, Iris; Bindics, János; ... Nagy, Ferenc 2012
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A multi-SNP locus-association method reveals a substantial fraction of the missing heritability Ehret, Georg Benedikt; Lamparter, David; Hoggart, Clive J.; Whittaker, John C.; ... Kutalik, Zoltán 2012
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MGMT methylation analysis of glioblastoma on the Infinium methylation BeadChip identifies two distinct CpG regions associated with gene silencing and outcome, yielding a prediction model for comparisons across datasets, tumor grades, and CIMP-status Bady, Pierre; Sciuscio, Davide; Diserens, Annie-Claire; Bloch, Jocelyne; ... Hegi, Monika E 2012
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Genome-wide association study identifies variants associated with progression of liver fibrosis from HCV infection Patin, Etienne; Kutalik, Zoltán; Guergnon, Julien; Bibert, Stéphanie; ... Abel, Laurent 2012
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Serum ferritin levels are associated with a distinct phenotype of chronic hepatitis C poorly responding to pegylated interferon-alpha and ribavirin therapy Lange, Christian M; Kutalik, Zoltan; Morikawa, Kenichi; Bibert, Stéphanie; ... Bochud, Pierre-Yves 2012
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Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes Small, Kerrin S; Hedman, Asa K; Grundberg, Elin; Nica, Alexandra; ... Dermitzakis, Emmanouil 2011
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The architecture of gene regulatory variation across multiple human tissues: the MuTHER study Nica, Alexandra; Parts, Leopold; Glass, Daniel; Nisbet, James; ... Spector, Timothy D 2011
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Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype Clot, Fabienne; Grabli, David; Burbaud, Pierre; Aya, Magali; ... Brice, Alexis 2011
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus Jacquemont, Sébastien 2011
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Epigenetic contribution to stress adaptation in plants Mirouze, Marie; Paszkowski, Jerzy 2011
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Counselling of a couple faced with a prenatal diagnosis of Klinefelter syndrome Perroud, Céline Michèle; Van Vliet, Guy 2011
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Epidemiology and virulence insights from MRSA and MSSA genome analysis Lazarevic, Vladimir; Beaume, Marie-Emilie; Corvaglia, Anna; Hernandez, David; ... Francois, Patrice 2011
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Replicative phenotyping adds value to genotypic resistance testing in heavily pre-treated HIV-infected individuals: the Swiss HIV Cohort Study Fehr, Jan; Glass, Tracy R; Louvel, Séverine; Hamy, François; ... Klimkait, Thomas 2011
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Cryptic splice site usage leading to truncated TMPRSS6 is responsible for iron refractory iron deficiency anaemia in an Italian Family Tchou, Isabelle; Neerman Arbez, Marguerite; Beris, Photis 2011
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A novel frameshift mutation in FGA (c.1846 del A) leading to congenital afibrinogenemia in a consanguineous Syrian family Levrat, Emmanuel; Aboukhamis, Imad; De Moerloose, Philippe; Farho, Jaafar; ... Neerman Arbez, Marguerite 2011
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Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study International Consortium for Blood Pressure Genome-Wide Association Studies 2011
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SNPs and other features as they predispose to complex disease: genome-wide predictive analysis of a quantitative phenotype for hypertension Won, Joong-Ho; Ehret, Georg Benedikt; Chakravarti, Aravinda; Olshen, Richard A 2011
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Relationship between paraoxonase-1 activity, its Q192R genetic variant and clopidogrel responsiveness in the ADRIE study Fontana, Pierre; James, Richard William; Barazer, I; Berdagué, P; ... Reny, Jean-Luc 2011
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EWS-FLI-1 modulates miRNA145 and SOX2 expression to initiate mesenchymal stem cell reprogramming toward Ewing sarcoma cancer stem cells Riggi, Nicolo; Suva, Mario-Luca; De Vito, Claudio; Provero, Paolo; ... Stamenkovic, Ivan 2010
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Génération de cellules béta-pancréatiques par conversion spontanée de cellules alpha chez des souris diabétiques Thorel, Fabrizio; Herrera, Pedro Luis 2010
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Quorum sensing-dependent virulence during Pseudomonas aeruginosa colonisation and pneumonia in mechanically ventilated patients Kohler, Thilo; Guanella, Raphaël; Carlet, Jean; Van Delden, Christian 2010
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Genome-wide pharmacogenetics of antidepressant response in the GENDEP project Uher, Rudolf; Perroud, Nader Ali; Ng, Mandy Y. M.; Hauser, Joanna; ... McGuffin, Peter 2010
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Distinct clinical phenotypes associated with JAK2V617F reflect differential STAT1 signaling Chen, Edwin; Beer, Philip A.; Godfrey, Anna L.; Ortmann, Christina A.; ... Green, Anthony R. 2010
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The molecular chaperone Hsp90alpha is required for meiotic progression of spermatocytes beyond pachytene in the mouse Grad, Iwona; Cederroth, Christopher; Walicki, Joël Jonathan; Grey, Corinne; ... Picard, Didier 2010
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Motif III in superfamily 2 "helicases" helps convert the binding energy of ATP into a high-affinity RNA binding site in the yeast DEAD-box protein Ded1 Banroques, Josette; Doere, Monique; Dreyfus, Marc; Linder, Patrick; Tanner, N Kyle 2010
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