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 TitleAuthors / EditorsDate
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A novel recessive RPGRIP1 mutation causing leber congenital amaurosis Abouzeid, Hana; Othman, I S; Schorderet, D F 2016
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Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms Ibáñez, Pablo; Lesage, Suzanne; Janin, Sabine; Lohmann, Ebba; ... Brice, Alexis 2009
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An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium 2012
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ANKRD26-related thrombocytopenia and myeloid malignancies Noris, Patrizia; Favier, Remi; Alessi, Marie-Christine; Geddis, Amy E; ... Balduini, Carlo L 2013
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Apolipoprotein CIII overexpressing mice are predisposed to diet-induced hepatic steatosis and hepatic insulin resistance Lee, Hui-Young; Birkenfeld, Andreas L; Jornayvaz, François; Jurczak, Michael J; ... Shulman, Gerald I 2011
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Association of the CD226 Ser(307) variant with systemic sclerosis: evidence of a contribution of costimulation pathways in systemic sclerosis pathogenesis Dieudé, P; Guedj, M; Truchetet, Marie-Elise; Wipff, J; ... Allanore, Y 2011
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Candidate genes for temporal lobe epilepsy: a replication study Trachsler-Salzmann, Annick; Perroud, Nader; Crespel, Arielle; Lambercy, Carmen; Malafosse, Alain 2008
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Connexin 37 limits thrombus propensity by downregulating platelet reactivity Angelillo-Scherrer, Anne; Fontana, Pierre; Burnier, Laurent; Roth, Isabelle; ... Kwak, Brenda 2011
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De novo variants in neurodevelopmental disorders with epilepsy Heyne, Henrike O; Singh, Tarjinder; Stamberger, Hannah; Abou Jamra, Rami; ... Lemke, Johannes R 2018
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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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EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? Lesage, Suzanne; Condroyer, Christel; Klebe, Stephan; Lohmann, Ebba; ... Brice, Alexis 2012
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Exome sequencing identifies putative drivers of progression of transient myeloproliferative disorder to AMKL in infants with Down syndrome Nikolaev, Sergey Igorievich; Santoni, Federico; Vannier, Anne; Falconnet, Emilie; ... Antonarakis, Stylianos 2013
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Fibrinogen Gdansk: hypofibrinogenemia associated with a novel missense mutation in FGA (Ser112Pro) Mital, Andrzej; Undas, Anetta; Neerman Arbez, Marguerite; Hellmann, Andrzej 2012
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Genetic studies of body mass index yield new insights for obesity biology Locke, Adam E; Kahali, Bratati; Berndt, Sonja I; Justice, Anne E; ... Mach, François 2015
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Genome-wide profiling of blood pressure in adults and children Taal, Hendrik R; Verwoert, Germaine C; Demirkan, Ayse; Janssens, A Cecile J W; ... van Duijn, Cornelia 2012
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Guidelines for investigating causality of sequence variants in human disease MacArthur, D G; Manolio, T A; Dimmock, D P; Rehm, H L; ... Gunter, C 2014
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Identification of a sudden cardiac death susceptibility locus at 2q24.2 through genome-wide association in European ancestry individuals Arking, Dan E; Junttila, M. Juhani; Goyette, Philippe; Huertas-Vazquez, Adriana; ... Newton-Cheh, Christopher 2011
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Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies Nalls, Michael A; Plagnol, Vincent; Hernandez, Dena G; Sharma, Manu; ... Wood, Nicholas W 2011
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Influence of CRTC1 polymorphisms on body mass index and fat mass in psychiatric patients and the general adult population Choong, Eva; Quteineh, Lina; Cardinaux, Jean-René; Gholam-Rezaee, Mehdi; ... Eap, Chin Bin 2013
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Low disease risk in relatives of north african lrrk2 Parkinson disease patients Troiano, A R; Elbaz, A; Lohmann, E; Belarbi, S; ... Brice, A 2010
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