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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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A multitracer dopaminergic PET study of young-onset parkinsonian patients with and without parkin gene mutations Ribeiro, Maria-Joao; Thobois, Stéphane; Lohmann, Ebba; du Montcel, S. T.; ... Remy, P. 2009
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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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APOE and modulation of Alzheimer's and frontotemporal dementia Boccardi, Marina; Sabattoli, F; Testa, C; Beltramello, A; ... Frisoni, Giovanni 2004
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Are parkin patients particularly suited for deep-brain stimulation? Lohmann, Ebba; Welter, Marie-Laure; Fraix, Valerie; Krack, Paul; ... Brice, Alexis 2008
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Association of multiple vertebral hemangiomas and severe paraparesis in a patient with a PTEN hamartoma tumor syndrome. Case report Jenny, Benoît John; Radovanovic, Ivan; Haenggeli, Charles-Antoine; Delavelle, Jacqueline; ... Rilliet, Bénédict 2007
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ATM variants and predisposition to childhood T-lineage acute lymphoblastic leukaemia Gumy Pause, Fabienne; Wacker, Pierre; Maillet, Philippe; Betts, D R; Sappino, Pascal 2006
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beta-cell transcription factors and diabetes: no evidence for diabetes-associated mutations in the gene encoding the basic helix-loop-helix transcription factor neurogenic differentiation 4 (NEUROD4) in Japanese patients with MODY. Horikawa, Yohko; Horikawa, Yukio; Cox, Nancy J.; Iwasaki, Naoko; ... Bell, Graeme I. 2000
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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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Chromatin insulator elements block the silencing of a target gene by the Drosophila polycomb response element (PRE) but allow trans interactions between PREs on different chromosomes Sigrist, Christian; Pirrotta, Vincenzo 1997
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Combined factor V - factor VIII deficiency (F5F8D): compound heterozygosity for two novel truncating mutations in LMAN1 in a consanguineous patient Farah, R. A.; De Moerloose, Philippe; Bouchardy, Isabelle; Morris, Michael Andréw; ... Neerman Arbez, Marguerite 2006
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Congenital afibrinogenemia: identification and expression of a missense mutation in FGB impairing fibrinogen secretion Vu, Dung; Bolton-Maggs, P. H.; Parr, J. R.; Morris, Michael Andréw; ... Neerman Arbez, Marguerite 2003
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Constitutive expression of bcl-2 in B cells causes a lethal form of lupuslike autoimmune disease after induction of neonatal tolerance to H-2b alloantigens Lopez-Hoyos, Marcos; Carrio, R.; Merino, Ramon; Buelta, Luis; ... Merino, Jesus 1996
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Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals Ries, S; Büchler, C; Schindler, G; Aslanidis, C; ... Schmitz, G 1998
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Disentangling human tolerance and resistance against HIV. Regoes, Roland R; McLaren, Paul J; Battegay, Manuel; Bernasconi, Enos; ... Fellay, Jacques 2014
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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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Dominant negative pathogenesis by mutant proinsulin in the Akita diabetic mouse Izumi, Tetsuro; Yokota-Hashimoto, Hiromi; Zhao, Shengli; Wang, Jie; ... Takeuchi, Toshiyuki 2003
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Effect of the XbaI polymorphism of estrogen receptor alpha on postmenopausal gray matter Boccardi, Marina; Scassellati, Catia; Ghidoni, Roberta; Testa, Cristina; ... Frisoni, Giovanni 2008
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Electron currents generated by the human phagocyte NADPH oxidase Schrenzel, Jacques; Serrander, Lena; Banfi, Botond; Nusse, Olivier; ... Krause, Karl-Heinz 1998
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Evolutionary comparison provides evidence for pathogenicity of RMRP mutations Bonafe, Luisa; Dermitzakis, Emmanouil; Unger, Sheila; Greenberg, C. R.; ... Reymond, Alexandre 2005
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