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Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls Makrythanasis, Periklis; Kapranov, Philipp; Bartoloni, Lucia; Reymond, Alexandre; ... Antonarakis, Stylianos 2009
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Proliferation deficits and gene expression dysregulation in Down's syndrome (Ts1Cje) neural progenitor cells cultured from neurospheres Moldrich, R. X.; Dauphinot, Luce; Laffaire, Julien; Vitalis, Tania; ... Potier, M. C. 2009
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Transcriptional and post-transcriptional profile of human chromosome 21 Nikolaev, Sergey Igorievich; Deutsch Escalante, Samuel; Genolet, Raphaël; Borel, Christelle; ... Antonarakis, Stylianos 2009
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A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of down syndrome Pereira, P. L.; Magnol, Laetitia; Sahun, Ignasi; Brault, Veronique; ... Herault, Yann 2009
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Welcome to PathoGenetics Ballabio, Andrea; Antonarakis, Stylianos 2008
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In vitro whole-genome analysis identifies a susceptibility locus for HIV-1 Loeuillet, Corinne; Deutsch, Samuel; Ciuffi, Angela; Robyr, Daniel; ... Telenti, Amalio 2008
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Genomic determinants of the efficiency of internal ribosomal entry sites of viral and cellular origin Kazadi, Kayole; Loeuillet, Corinne; Deutsch, Samuel; Ciuffi, Angela; ... Telenti, Amalio 2008
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Evolutionary forces shape the human RFPL1,2,3 genes toward a role in neocortex development Bonnefont, Jérôme; Nikolaev, Sergey Igorievich; Perrier, Anselme L.; Guo, Song; ... Krause, Karl-Heinz 2008
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Mapping of small RNAs in the human ENCODE regions Borel, Christelle; Gagnebin, Maryline; Gehrig, Corinne; Kriventseva, Evgenia; ... Antonarakis, Stylianos 2008
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Human nocturnal frontal lobe epilepsy: pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore Hoda-Jourdan, Jean-Charles; Gu, Wenli; Friedli, Marc; Phillips, Hilary A.; ... Bertrand, Daniel 2008
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Assaying the regulatory potential of mammalian conserved non-coding sequences in human cells Attanasio, Catia; Reymond, Alexandre; Humbert, Richard; Lyle, Robert; ... Stamatoyannopoulos, John A. 2008
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TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness Guipponi, Michel; Antonarakis, Stylianos; Scott, Hamish Steele 2008
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Characterization of mouse Dactylaplasia mutations: a model for human ectrodactyly SHFM3 Friedli, Marc; Nikolaev, Sergey Igorievich; Lyle, Robert; Arcangeli, Mélanie; ... Antonarakis, Stylianos 2008
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Functional genetic variation of human miRNAs and phenotypic consequences Borel, Christelle; Antonarakis, Stylianos 2008
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Efficient targeted transcript discovery via array-based normalization of RACE libraries Djebali, Sarah; Kapranov, Philipp; Foissac, Sylvain; Lagarde, Julien; ... Guigo, Roderic 2008
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Monozygotic twins discordant for trisomy 21 and maternal 21q inheritance: a complex series of events Dahoun, Sophie; Gagos, Sarantis; Gagnebin, Maryline; Gehrig, Corinne; ... Blouin, Jean-Louis 2008
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Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations Schwabe, Georg C.; Hoffmann, Katrin; Loges, Niki Tomas; Birker, Daniel; ... Bartoloni, Lucia 2008
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A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy Fokstuen, Siv; Lyle, Robert; Munoz, Analia; Gehrig, Corinne; ... Blouin, Jean-Louis 2008
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Subtelomeric 6p deletion: clinical and array-CGH characterization in two patients Martinet, Danielle; Filges, Isabel; Besuchet Schmutz, Nathalie; Morris, Michael Andréw; ... Bena, Frédérique 2008
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CNVs and genetic medicine (excitement and consequences of a rediscovery) Beckmann, J. S.; Sharp, A. J.; Antonarakis, Stylianos 2008
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