| Title | Authors / Editors | Date |
unige:142388 |
A novel recessive RPGRIP1 mutation causing leber congenital amaurosis |
Abouzeid, Hana; Othman, I S; Schorderet, D F |
2016 |
unige:45179 |
Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms |
Ibáñez, Pablo; Lesage, Suzanne; Janin, Sabine; Lohmann, Ebba; ... Brice, Alexis |
2009 |
unige:37818 |
An integrated encyclopedia of DNA elements in the human genome |
ENCODE Project Consortium |
2012 |
unige:89773 |
ANKRD26-related thrombocytopenia and myeloid malignancies |
Noris, Patrizia; Favier, Remi; Alessi, Marie-Christine; Geddis, Amy E; ... Balduini, Carlo L |
2013 |
unige:100728 |
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 |
unige:25236 |
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 |
unige:2538 |
Candidate genes for temporal lobe epilepsy: a replication study |
Trachsler-Salzmann, Annick; Perroud, Nader; Crespel, Arielle; Lambercy, Carmen; Malafosse, Alain |
2008 |
unige:21574 |
Connexin 37 limits thrombus propensity by downregulating platelet reactivity |
Angelillo-Scherrer, Anne; Fontana, Pierre; Burnier, Laurent; Roth, Isabelle; ... Kwak, Brenda |
2011 |
unige:128287 |
De novo variants in neurodevelopmental disorders with epilepsy |
Heyne, Henrike O; Singh, Tarjinder; Stamberger, Hannah; Abou Jamra, Rami; ... Lemke, Johannes R |
2018 |
unige:114072 |
Effect of the XbaI polymorphism of estrogen receptor alpha on postmenopausal gray matter |
Boccardi, Marina; Scassellati, Catia; Ghidoni, Roberta; Testa, Cristina; ... Frisoni, Giovanni |
2008 |
unige:45192 |
EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? |
Lesage, Suzanne; Condroyer, Christel; Klebe, Stephan; Lohmann, Ebba; ... Brice, Alexis |
2012 |
unige:34516 |
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 |
unige:32308 |
Fibrinogen Gdansk: hypofibrinogenemia associated with a novel missense mutation in FGA (Ser112Pro) |
Mital, Andrzej; Undas, Anetta; Neerman Arbez, Marguerite; Hellmann, Andrzej |
2012 |
unige:90584 |
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 |
unige:32242 |
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 |
unige:42274 |
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 |
unige:32739 |
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 |
unige:45211 |
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 |
unige:43122 |
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 |
unige:32877 |
Low disease risk in relatives of north african lrrk2 Parkinson disease patients |
Troiano, A R; Elbaz, A; Lohmann, E; Belarbi, S; ... Brice, A |
2010 |