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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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Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature Sloan Bena, Frédérique; Bruno, Damien L; Eriksson, Mats; van Ravenswaaij-Arts, Conny; ... Schoumans, Jacqueline 2013
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Analyses of the functional regions of DEAD-box RNA "helicases" with deletion and chimera constructs tested in vivo and in vitro Banroques, Josette; Cordin, Olivier; Doere, Monique; Linder, Patrick; Tanner, N Kyle 2011
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Transcriptome analysis of Neisseria meningitidis in human whole blood and mutagenesis studies identify virulence factors involved in blood survival Echenique-Rivera, Hebert; Muzzi, Alessandro; Del Tordello, Elena; Seib, Kate L; ... Serruto, Davide 2011
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Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype Clot, Fabienne; Grabli, David; Burbaud, Pierre; Aya, Magali; ... Brice, Alexis 2011
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Loss of Dicer in Sertoli cells has a major impact on the testicular proteome of mice Papaioannou, Marilena D; Lagarrigue, Mélanie; Vejnar, Charles; Rolland, Antoine D; ... Nef, Serge 2011
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Combined pancreatic islet-lung transplantation: a novel approach to the treatment of end-stage cystic fibrosis Kessler, L.; Bakopoulou, S.; Kessler, R.; Massard, G.; ... Berney, Thierry 2010
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Control of the Staphylococcus aureus toxic shock tst promoter by the global regulator SarA Andrey, Diego Olivier; Renzoni, Adriana Maria; Monod, Antoinette; Lew, Daniel Pablo; ... Kelley, William 2010
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NS-based live attenuated H1N1 pandemic vaccines protect mice and ferrets Zhou, Bin; Li, Yan; Belser, Jessica A; Pearce, Melissa B; ... Wentworth, David E 2010
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Inherited dysfibrinogenemia: clinical phenotypes associated with five different fibrinogen structure defects Miesbach, Wolfgang; Scharrer, Inge; Henschen, Agnes; Neerman Arbez, Marguerite; ... Galanakis, Dennis 2010
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Disease-causing 7.4 kb cis-regulatory deletion disrupting conserved non-coding sequences and their interaction with the FOXL2 promotor: implications for mutation screening D'Haene, B.; Attanasio, Catia; Beysen, Diane; Dostie, Josee; ... De Baere, Elfride 2009
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A novel frameshift mutation in FGA accounting for congenital afibrinogenemia predicted to encode an aberrant peptide terminating 158 amino acids downstream Robert-Ebadi, Helia; De Moerloose, Philippe; El Khorassani, M.; El Khattab, M.; Neerman Arbez, Marguerite 2009
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Haematologic data, iron parameters and molecular findings in two new cases of iron-refractory iron deficiency anaemia Tchou, Isabelle; Diepold, Myriam; Pilotto, P. A.; Swinkels, Dorine; ... Beris, Photis 2009
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A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function Spinazzi, Marco; Cazzola, Silvia; Bortolozzi, Mario; Baracca, Alessandra; ... Vergani, Lodovica 2008
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CFTR in a lipid raft-TNFR1 complex modulates gap junctional intercellular communication and IL-8 secretion Dudez, Tecla; Borot, Florence; Huang, Song; Kwak, Brenda; ... Chanson, Marc 2008
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Impact of a three amino acid deletion in the CH2 domain of murine IgG1 on Fc-associated effector functions Baudino, Lucie Clementine; Nimmerjahn, Falk; Shinohara, Yasuro; Furukawa, Jun-Ichi; ... Izui, Shozo 2008
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p23/Sba1p protects against Hsp90 inhibitors independently of its intrinsic chaperone activity Forafonov, Fedor; Toogun, Oyetunji A.; Grad, Iwona; Suslova, Elena; ... Picard, Didier 2008
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Coordination of Hpr1 and ubiquitin binding by the UBA domain of the mRNA export factor Mex67 Hobeika, Maria; Brockmann, Christoph; Iglesias, Nahid; Gwizdek, Carole; ... Dargemont, Catherine 2007
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A SAGA-independent function of SPT3 mediates transcriptional deregulation in a mutant of the Ccr4-not complex in Saccharomyces cerevisiae James, Nicole; Landrieux, Emilie; Collart, Martine 2007
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Mutations in the fibrinogen gene cluster accounting for congenital afibrinogenemia: an update and report of 10 novel mutations Neerman Arbez, Marguerite; De Moerloose, Philippe 2007
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