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 TitleAuthors / EditorsDate
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Multiplex targeted high-throughput sequencing for Mendelian cardiac disorders Fokstuen, Siv; Makrythanasis, Periklis; Nikolaev, Sergey Igorievich; Santoni, Federico; ... Blouin, Jean-Louis 2014
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What is a biobank? Differing definitions among biobank stakeholders Shaw, D.M.; Elger, Bernice Simone; Colledge, F. 2014
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Pathogenic variants in non-protein-coding sequences Makrythanasis, Periklis; Antonarakis, Stylianos 2013
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MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study Makrythanasis, Periklis; van Bon, Bw; Merla, Giuseppe; Antonarakis, Stylianos; Hoischen, A 2013
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Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? Krahn, M.; Goicoechea, M.; Hanisch, F.; Groen, E.; ... Lopez de Munain, A. 2011
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Sudden death: ethical and legal problems of post-mortem forensic genetic testing for hereditary cardiac diseases Elger, Bernice Simone; Michaud, Karen; Fellmann, F; Mangin, Patrice 2010
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De novo duplication of MECP2 in a girl with mental retardation and no obvious dysmorphic features Makrythanasis, Periklis; Moix, Isabelle; Gimelli, Stefania; Fluss, Joel Victor; ... Bottani, Armand 2010
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Huntington's disease: do future physicians and lawyers think eugenically? Elger, Bernice Simone; Harding, Timothy 2003