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Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness Masmoudi, S.; Antonarakis, Stylianos; Schwede, T.; Ghorbel, A. M.; ... Guipponi, Michel 2001
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Alternative splice variants of hTrp4 differentially interact with the C-terminal portion of the inositol 1,4,5-trisphosphate receptors Mery, Laurence; Magnino, F.; Schmidt, K.; Krause, Karl-Heinz; Dufour, J. F. 2001
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Hierarchical assembly of the Alu domain of the mammalian signal recognition particle Weichenrieder, O; Stehlin, C; Kapp, U; Birse, D E; ... Cusack, S 2001
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Ectopic HP1 promotes chromosome loops and variegated silencing in Drosophila Seum, Carole; Delattre, Marion; Spierer, Anne; Spierer, Pierre 2001
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DNA sequence variability of IGHG3 alleles associated to the main G3m haplotypes in human populations Dard, Patricia; Lefranc, Marie-Paule; Osipova, Ludmilla; Sanchez-Mazas, Alicia 2001
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Frequency of replication/transcription errors in (A)/(T) runs of human genes Giacobino, Ariane; Rossier, Colette; Papasavvas, M.; Antonarakis, Stylianos 2001
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SWISS-PROT: connecting biomolecular knowledge via a protein database Gasteiger, Elisabeth; Jung, Eva; Bairoch, Amos Marc 2001
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Subcellular localization and characterization of chorismate synthase in the apicomplexan Plasmodium falciparum Fitzpatrick, Thérésa Bridget; Ricken, S; Lanzer, M; Amrhein, N; ... Kappes, B 2001
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Toxoplasma gondii myosins B/C: one gene, two tails, two localizations, and a role in parasite division Delbac, F; Sänger, A; Neuhaus, E M; Stratmann, R; ... Soldati-Favre, Dominique 2001
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Activation of multiple cryptic donor splice sites by the common congenital afibrinogenemia mutation, FGA IVS4 + 1 G→T Attanasio, Catia; De Moerloose, Philippe; Antonarakis, Stylianos; Morris, Michael Andréw; Neerman Arbez, Marguerite 2001
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Fibrinogen gene mutations accounting for congenital afibrinogenemia Neerman Arbez, Marguerite 2001
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The molecular basis of inherited afibrinogenaemia Neerman Arbez, Marguerite 2001
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Intestinal CD8 alpha alpha and CD8 alpha beta intraepithelial lymphocytes are thymus derived and exhibit subtle differences in TCR beta repertoires Imhof, Beat; Dunon, D.; Courtois, D.; Luhtala, M.; Vainio, O. 2000
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Markedly different pathogenicity of four immunoglobulin G isotype-switch variants of an antierythrocyte autoantibody is based on their capacity to interact in vivo with the low-affinity Fcgamma receptor III Fossati-Jimack, Liliane; Ioan-Facsinay, A.; Reininger, Luc; Chicheportiche, Yves; ... Izui, Shozo 2000
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Expression of the endogenous type II secretion pathway in Escherichia coli leads to chitinase secretion Francetic, O.; Belin, Dominique; Badaut, C.; Pugsley, A. P. 2000
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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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C21orf5, a novel human chromosome 21 gene, has a Caenorhabditis elegans ortholog (pad-1) required for embryonic patterning Guipponi, Michel; Brunschwig, K.; Chamoun, Z.; Scott, Hamish Steele; ... Antonarakis, Stylianos 2000
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Cloning and characterization of a putative human glycerol 3-phosphate permease gene (SLC37A1 or G3PP) on 21q22.3: mutation analysis in two candidate phenotypes, DFNB10 and a glycerol kinase deficiency Bartoloni, Lucia; Wattenhofer, M.; Kudoh, J.; Berry, A.; ... Antonarakis, Stylianos 2000
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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion den Dunnen, J. T.; Antonarakis, Stylianos 2000
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No deleterious mutations in the FOXJ1 (alias HFH-4) gene in patients with primary ciliary dyskinesia (PCD) Maiti, A. K.; Bartoloni, Lucia; Mitchison, H. M.; Meeks, M.; ... Antonarakis, Stylianos 2000
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