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Schizophrenia and chromosomal deletions within 22q11.2 Lindsay, E. A.; Morris, Michael Andréw; Gos, A.; Nestadt, G.; ... Pulver, A. E. 1995
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Molecular etiology of factor VIII deficiency in hemophilia A Antonarakis, Stylianos; Kazazian, H. H.; Tuddenham, E. G. 1995
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Essential domains of the PRP21 splicing factor are implicated in the binding to PRP9 and PRP11 proteins and are conserved through evolution Rain, J C; Tartakoff, A M; Kraemer, Angela; Legrain, P 1996
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Partial characterization of a Sendai virus replication promoter and the rule of six Pelet, Thierry; Delenda, Christophe; Gubbay, Oliver James; Garcin, Dominique; Kolakofsky, Daniel 1996
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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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A truncation in the 14 kDa protein of the signal recognition particle leads to tertiary structure changes in the RNA and abolishes the elongation arrest activity of the particle Thomas, Yves; Bui, Nazarena; Strub, Katharina 1997
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Identification of a minimal Alu RNA folding domain that specifically binds SRP9/14 Weichenrieder, Oliver Ulrich; Kapp, U; Cusack, S; Strub, Katharina 1997
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The dipeptide repeat region of the fibrinogen-binding protein (clumping factor) is required for functional expression of the fibrinogen-binding domain on the Staphylococcus aureus cell surface Hartford, O. M.; Francois, Patrice; Vaudaux, Pierre; Foster, T. J. 1997
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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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Altered spacing of promoter elements due to the dodecamer repeat expansion contributes to reduced expression of the cystatin B gene in EPM1 Lalioti, M. D.; Scott, Hamish Steele; Antonarakis, Stylianos 1999
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The 11 kb FGA deletion responsible for congenital afibrinogenaemia is mediated by a short direct repeat in the fibrinogen gene cluster Neerman Arbez, Marguerite; Antonarakis, Stylianos; Honsberger, A.; Morris, Michael Andréw 1999
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Mutation analyses of North American APS-1 patients Heino, M.; Scott, Hamish Steele; Chen, Q.; Peterson, P.; ... Krohn, K. 1999
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Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B Wiszniewski, W.; Fondaneche, M. C.; Lambert, N.; Masternak, Krzysztof; ... Lisowska-Grospierre, B. 2000
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Dysregulated expression of the Cd22 gene as a result of a short interspersed nucleotide element insertion in Cd22a lupus-prone mice Mary, Charles; Laporte, Catherine; Parzy, Daniel; Santiago-Raber, Marie-Laure; ... Reininger, Luc 2000
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Identification of a novel saturable endoplasmic reticulum localization mechanism mediated by the C-terminus of a Dictyostelium protein disulfide isomerase Monnat, J; Neuhaus, E M; Pop, M S; Ferrari, D M; ... Soldati, Thierry 2000
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Mutations in the fibrinogen aalpha gene account for the majority of cases of congenital afibrinogenemia Neerman Arbez, Marguerite; De Moerloose, Philippe; Bridel, C.; Honsberger, A.; ... Morris, Michael Andréw 2000
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Nomenclature for the description of human sequence variations den Dunnen, J. T.; Antonarakis, Stylianos 2001
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Fibrinogen gene mutations accounting for congenital afibrinogenemia Neerman Arbez, Marguerite 2001
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Role of the carboxyl terminal of connexin43 in transjunctional fast voltage gating Moreno, Alonso P; Chanson, Marc; Elenes, Sergio; Anumonwo, Justus; ... Delmar, Mario 2002
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Promoter IV of the class II transactivator gene is essential for positive selection of CD4+ T cells Waldburger, Jean-Marc; Rossi, Simona; Hollander, Georg; Rodewald, H. R.; ... Acha-Orbea, Hans 2003
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