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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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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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The forensic use of behavioral genetics in criminal proceedings: Case of the MAOA-L genotype McSwiggan, Sally; Elger, Bernice Simone; Appelbaum, Paul S 2017
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Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa Duncan, Laramie; Yilmaz, Zeynep; Gaspar, Helena; Walters, Raymond; ... Bulik, Cynthia M 2017
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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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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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Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration van der Zee, Julie 2014
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Towards the identification of a genetic basis for Landau-Kleffner syndrome Conroy, Judith; McGettigan, Paul A; McCreary, Dara; Shah, Naisha; ... King, Mary D 2014
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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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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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ANKRD26-related thrombocytopenia and myeloid malignancies Noris, Patrizia; Favier, Remi; Alessi, Marie-Christine; Geddis, Amy E; ... Balduini, Carlo L 2013
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Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers Weckhuysen, Sarah; Holmgren, Philip; Hendrickx, Rik; Jansen, Anna C; ... Suls, Arvid 2013
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Mutations of DEPDC5 cause autosomal dominant focal epilepsies Ishida, Saeko; Picard, Fabienne; Rudolf, Gabrielle; Noé, Eric; ... Baulac, Stéphanie 2013
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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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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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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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Mutations in CTC1, encoding conserved telomere maintenance component 1, cause Coats plus Anderson, Beverley H; Kasher, Paul R; Mayer, Josephine 2012
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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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An integrated encyclopedia of DNA elements in the human genome ENCODE Project Consortium 2012
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Psoriasis Boehncke, Wolf-Henning; Mrowietz, Ulrich 2012
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