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 TitleAuthors / EditorsDate
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Human genomics. The Genotype-Tissue Expression (GTEx) pilot analysis: multitissue gene regulation in humans GTEx Consortium 2015
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Whole exome sequencing of a dominant retinitis pigmentosa family identifies a novel deletion in PRPF31 Villanueva, Adda; Willer, Jason R; Bryois, Julien; Dermitzakis, Emmanouil; ... Davis, Erica E 2014
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Assessment of transcript reconstruction methods for RNA-seq Steijger, Tamara; Abril, Josep F; Engström, Pär G; Kokocinski, Felix; ... Antonarakis, Stylianos 2013
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Hypodysfibrinogenaemia due to production of mutant fibrinogen alpha-chains lacking fibrinopeptide A and polymerisation knob 'A' Vorjohann, Silja; Fish, Richard; Biron-Andreani, Christine; Nagaswami, Chandrasekaran; ... Neerman-Arbez, Marguerite 2010
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Synaptotagmin VII splice variants alpha, beta, and delta are expressed in pancreatic beta-cells and regulate insulin exocytosis Gauthier, Benoit; Duhamel, Dominique L.; Iezzi, Mariella; Theander, Sten; ... Wollheim, Claes 2008
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The implications of alternative splicing in the ENCODE protein complement Tress, M. L.; Martelli, P. L.; Frankish, Adam; Reeves, G. A.; ... Valencia, Alfonso 2007
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DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects Hornef, Nada; Olbrich, Heike; Horvath, Judit; Zariwala, M. A.; ... Omran, Heymut 2006
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Molecular basis of fibrinogen deficiency Neerman-Arbez, Marguerite 2006
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Alu elements as regulators of gene expression Hasler, Julien; Strub, Katharina 2006
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Human splicing factor SF3a, but not SF1, is essential for pre-mRNA splicing in vivo Tanackovic Abbas-Terki, Goranka; Kraemer, Angela 2005
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Structure-function analysis of the U2 snRNP-associated splicing factor SF3a Kraemer, Angela; Ferfoglia, Fabio; Huang, Ching-Jung; Mulhaupt, Flore; ... Tanackovic Abbas-Terki, Goranka 2005
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Cellular viral rebound after cessation of potent antiretroviral therapy predicted by levels of multiply spliced HIV-1 RNA encoding nef Fischer, Marek; Joos, Beda; Hirschel, Bernard; Bleiber, Gabriela; ... Gunthard, Huldrych 2004
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Expression and analysis of a split premature termination codon in FGG responsible for congenital afibrinogenemia: escape from RNA surveillance mechanisms in transfected cells Neerman-Arbez, Marguerite; Germanos-Haddad, Myrna; Tzanidakis, Konstantinos; Vu, Dung; ... De Moerloose, Philippe 2004
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Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA) Attanasio, Catia; David, Armelle; Neerman-Arbez, Marguerite 2003
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mRNA export: travelling with DEAD box proteins Linder, Patrick; Stutz, Françoise 2001
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Search for a mutation in the tau gene in a Swiss family with frontotemporal dementia Savioz, Armand; Kovari, Eniko Veronika; Anastasiu, R; Rossier, Colette; ... Leuba, G 2000
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Conservation of functional domains involved in RNA binding and protein-protein interactions in human and Saccharomyces cerevisiae pre-mRNA splicing factor SF1 Rain, J C; Rafi, Zahra; Rhani, Zakaria; Legrain, P; Kraemer, Angela 1998
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Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals Ries, S; Büchler, C; Schindler, G; Aslanidis, C; ... Schmitz, G 1998
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Identification of mutations in cystatin B, the gene responsible for the Unverricht-Lundborg type of progressive myoclonus epilepsy (EPM1) Lalioti, M. D.; Mirotsou, M.; Buresi, C.; Peitsch, M. C.; ... Antonarakis, Stylianos 1997
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Expression of leptin receptor mRNA (long form splice variant) in the human cerebellum Savioz, Armand; Charnay, Yves; Huguenin, C; Graviou, Christelle; ... Bouras, Constantin 1997
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