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Isolation and characterization of the UBASH3A gene on 21q22.3 encoding a potential nuclear protein with a novel combination of domains Wattenhofer, M.; Shibuya, K.; Kudoh, J.; Lyle, Robert; ... Scott, Hamish Steele 2001
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Molecular analysis of the fibrinogen gene cluster in 16 patients with congenital afibrinogenemia: novel truncating mutations in the FGA and FGG genes Neerman Arbez, Marguerite; De Moerloose, Philippe; Honsberger, A.; Parlier, G.; ... Morris, Michael Andréw 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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An apparently dominant bipolar affective disorder (BPAD) locus on chromosome 20p11.2-q11.2 in a large Turkish pedigree Radhakrishna, U.; Senol, S.; Herken, H.; Gucuyener, K.; ... Antonarakis, Stylianos 2001
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Prise en charge multidisciplinaire du cancer colorectal héréditaire Soravia, Claudio; Delozier-Blanchet, C; Blouin, Jean-Louis; Brundler, M. A.; ... Hutter, Pierre 2001
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Chromosome 21: a small land of fascinating disorders with unknown pathophysiology Antonarakis, Stylianos; Lyle, Robert; Deutsch, Samuel; Reymond, Alexandre 2002
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Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia Bartoloni, Lucia; Blouin, Jean-Louis; Pan, Yanzhen; Gehrig, Corinne; ... Antonarakis, Stylianos 2002
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Search for the second Peutz-Jeghers syndrome locus: exclusion of the STK13, PRKCG, KLK10, and PSCD2 genes on chromosome 19 and the STK11IP gene on chromosome 2 Buchet-Poyau, K.; Mehenni, H.; Radhakrishna, U.; Antonarakis, Stylianos 2002
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Numerous potentially functional but non-genic conserved sequences on human chromosome 21 Dermitzakis, Emmanouil; Reymond, Alexandre; Lyle, Robert; Scamuffa, Nathalie; ... Antonarakis, Stylianos 2002
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The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro Guipponi, Michel; Vuagniaux, Gregoire; Wattenhofer, Marie; Shibuya, Kazunori; ... Rossier, B. C. 2002
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Nineteen additional unpredicted transcripts from human chromosome 21 Reymond, Alexandre; Camargo, A. A.; Deutsch, Samuel; Stevenson, B. J.; ... Antonarakis, Stylianos 2002
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Human chromosome 21 gene expression atlas in the mouse Reymond, Alexandre; Marigo, Valeria; Yaylaoglu, M. B.; Leoni, Antonio; ... Ballabio, Andrea 2002
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A t(2;8) balanced translocation with breakpoints near the human HOXD complex causes mesomelic dysplasia and vertebral defects Spitz, François; Montavon, Thomas; Monso-Hinard, Christine; Morris, Michael Andréw; ... Duboule, Denis 2002
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Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients Wattenhofer, Marie; Di Iorio, M. V.; Rabionet, Raquel; Dougherty, Loretta; ... Antonarakis, Stylianos 2002
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In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis Michaud, Joelle; Wu, Feng; Osato, Motomi; Cottles, G. M.; ... Scott, Hamish Steele 2002
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Differential rates of frameshift alterations in four repeat sequences of hereditary nonpolyposis colorectal cancer tumors Giacobino, Ariane; Rey-Berthod, Claudine; Couturier, Alexia; Antonarakis, Stylianos; Hutter, Pierre 2002
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Language skills in children with velocardiofacial syndrome (deletion 22q11.2) Glaser, Bronwyn; Mumme, D. L.; Blasey, Christine; Morris, Michael Andréw; ... Eliez, Stéphan 2002
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The epilepsy, the protease inhibitor and the dodecamer: progressive myoclonus epilepsy, cystatin b and a 12-mer repeat expansion Lalioti, M. D.; Antonarakis, Stylianos; Scott, Hamish Steele 2003
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Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia Lewis, C. M.; Blouin, Jean-Louis; Antonarakis, Stylianos 2003
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Trapping and sequence analysis of 1138 putative exons from human chromosome 18 Chen, H.; Wang, N.; Huo, Y.; Sklar, P.; ... McInnis, M. G. 2003
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