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Bone Microarchitecture Phenotypes Identified in Older Adults Are Associated With Different Levels of Osteoporotic Fracture Risk Whittier, Danielle E; Samelson, Elizabeth J; Hannan, Marian T; Burt, Lauren A; ... Boyd, Steven K 2022
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Clinical phenotype, fibrinogen supplementation, and health-related quality of life in patients with afibrinogenemia Casini, Alessandro; von Mackensen, Sylvia; Santoro, Cristina; Djambas Khayat, Claudia; ... De Moerloose, Philippe 2021
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Deciphering the natural history of SCA7 in children Bah, M G; Rodriguez, D; Cazeneuve, C; Mochel, F; ... Mignot, C 2020
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Niche specialization and spread of Staphylococcus capitis involved in neonatal sepsis Wirth, Thierry; Bergot, Marine; Rasigade, Jean-Philippe; Pichon, Bruno; ... Laurent, Frédéric 2020
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Annexin V expression on CD4+ T cells with regulatory function Bollinger, Annalena; Bollinger, Thomas; Rupp, Jan; Shima, Kensuke; ... Seebach, Jorg Dieter 2020
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SCN8A heterozygous variants are associated with anoxic-epileptic seizures Ranza, Emmanuelle Nathalie; Z'Graggen, Werner; Lidgren, Mathias; Beghetti, Maurice; ... Korff, Christian 2020
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Induced pluripotent stem cells to understand mucopolysaccharidosis. i: demonstration of a migration defect in neural precursors Lito, Silvin; Sidibe, Adama; Ilmjarv, Sten; Burda, Patricie; ... Marteyn, Antoine 2020
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Deficiency of monoacylglycerol lipase enhances IgM plasma levels and limits atherogenesis in a CB2-dependent manner Guillamat Prats, Raquel; Rami, Martina; Ring, Larisa; Rinne, Petteri; ... Steffens, Sabine 2019
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Measured and Genotyped Differences in Blood Pressure and the Usefulness of Precise Extreme Phenotypes Based on Cardiovascular Magnetic Resonance Ehret, Georg Benedikt 2019
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ICE1 and ZOU determine the depth of primary seed dormancy in Arabidopsis independently of their role in endosperm development MacGregor, Dana R; Zhang, Naichao; Iwasaki, Mayumi; Chen, Min; ... Penfield, Steven 2019
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Usefulness of genetic testing in sudden cardiac arrest survivors with or without previous clinical evidence of heart disease Asatryan, Babken; Schaller, André; Seiler, Jens; Servatius, Helge; ... Medeiros-Domingo, Argelia 2019
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Investigating polygenic burden in age at disease onset in bipolar disorder: Findings from an international multicentric study Kalman, Janos L; Papiol, Sergi; Forstner, Andreas J; Heilbronner, Urs; ... Schulze, Thomas G 2019
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Identification of regulatory variants associated with genetic susceptibility to meningococcal disease Borghini, Lisa; Png, Eileen; Binder, Alexander; Wright, Victoria J; ... Davila, Sonia 2019
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Combined genetic and transcriptome analysis of patients with SLE: distinct, targetable signatures for susceptibility and severity Panousis, Nikolaos; Bertsias, George K; Ongen, Halit; Gergianaki, Irini; ... Boumpas, Dimitrios T 2019
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Genome-wide association study identifies eight risk loci and implicates metabo-psychiatric origins for anorexia nervosa Watson, Hunna J.; Yilmaz, Zeynep; Thornton, Laura M.; Hübel, Christopher; ... Bulik, Cynthia M. 2019
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A catalog of genetic loci associated with kidney function from analyses of a million individuals Wuttke, Matthias; Li, Yong; Li, Man; Sieber, Karsten B.; ... Pattaro, Cristian 2019
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Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference Young, Alexandra L; Marinescu, Razvan V; Oxtoby, Neil P; Bocchetta, Martina; ... Alexander, Daniel C 2018
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Understanding the tumor immune microenvironment (TIME) for effective therapy Binnewies, Mikhail; Roberts, Edward W; Kersten, Kelly; Chan, Vincent; ... Krummel, Matthew F 2018
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A new mutation in the C-terminal end of TTC37 leading to a mild form of syndromic diarrhea/tricho-hepato-enteric syndrome in seven patients from two families Fabre, Alexandre; Petit, Laëtitia Marie; Hansen, Lars F; Wewer, Anne V; ... Paerregaard, Anders 2018
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NBEA: Developmental disease gene with early generalized epilepsy phenotypes Mulhern, Maureen S; Stumpel, Constance; Stong, Nicholas; Brunner, Han G; ... Sands, Tristan T 2018
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