Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
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1 |
Material Type: Artigo
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Characterization of Dystrophin in Muscle-Biopsy Specimens from Patients with Duchenne's or Becker's Muscular DystrophyHoffman, Eric P ; Fischbeck, Kenneth H ; Brown, Robert H ; Johnson, Margaret ; Medori, Rosella ; Loire, John D ; Harris, John B ; Waterston, Robert ; Brooke, Michael ; Specht, Linda ; Kupsky, William ; Chamberlain, Jeffrey ; Caskey, C. Thomas ; Shapiro, Frederic ; Kunkel, Louis MThe New England journal of medicine, 1988-05, Vol.318 (21), p.1363-1368 [Periódico revisado por pares]Boston, MA: Massachusetts Medical SocietySem texto completo |
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2 |
Material Type: Artigo
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The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patientsZhao, Zhaoyang ; Lee, Chang-Chi ; Jiralerspong, Sarn ; Juyal, Ramesh C. ; Lu, Fei ; Baldini, Antonio ; Greenberg, Frank ; Caskey, C. Thomas ; Patel, Pragna I.Human molecular genetics, 1995-04, Vol.4 (4), p.589-597 [Periódico revisado por pares]Oxford: Oxford University PressSem texto completo |
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3 |
Material Type: Artigo
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Identification of the gene responsible for Best macular dystrophyPetrukhin, Konstantin ; Wadelius, Claes ; Koisti, Markus J ; Bakall, Benjamin ; Li, Wen ; Xie, Guochun ; Marknell, Towa ; Sandgren, Ola ; Forsman, Kristina ; Holmgren, Gösta ; Andreasson, Sten ; Vujic, Mihailo ; Bergen, Arthur A. B ; McGarty-Dugan, Valarie ; Figueroa, David ; Austin, Christopher P ; Metzker, Michael L ; Caskey, C.ThomasNature genetics, 1998-07, Vol.19 (3), p.241-247 [Periódico revisado por pares]London: Nature Publishing GroupTexto completo disponível |
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4 |
Material Type: Artigo
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Detection of single DNA base differences by competitive oligonucleotide primingGIBBS, R. A ; PHI-NGA NGUYEN ; CASKEY, C. TNucleic acids research, 1989-04, Vol.17 (7), p.2437-2448 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
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5 |
Material Type: Artigo
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AN INTACT CYSTEINE-RICH DOMAIN IS REQUIRED FOR DYSTROPHIN FUNCTIONBIES, RD ; CASKEY, CT ; FENWICK, RThe Journal of clinical investigation, 1992-08, Vol.90 (2), p.666-672 [Periódico revisado por pares]NEW YORK: Rockefeller Univ PressTexto completo disponível |
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6 |
Material Type: Artigo
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Unstable triplet repeat diseasesMONCKTON, D. G ; CASKEY, C. TCirculation (New York, N.Y.), 1995-01, Vol.91 (2), p.513-520 [Periódico revisado por pares]Hagerstown, MD: Lippincott Williams & WilkinsTexto completo disponível |
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7 |
Material Type: Artigo
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EXPRESSION AND LOCALIZATION OF DYSTROPHIN IN HUMAN CARDIAC PURKINJE-FIBERSBIES, RD ; FRIEDMAN, D ; ROBERTS, R ; PERRYMAN, MB ; CASKEY, CTCirculation (New York, N.Y.), 1992-07, Vol.86 (1), p.147-153 [Periódico revisado por pares]DALLAS: Amer Heart AssocTexto completo disponível |
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8 |
Material Type: Artigo
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POINT MUTATIONS AND POLYMORPHISMS IN THE HUMAN DYSTROPHIN GENE IDENTIFIED IN GENOMIC DNA-SEQUENCES AMPLIFIED BY MULTIPLEX PCRKILIMANN, MW ; PIZZUTI, A ; GROMPE, M ; CASKEY, CTHuman genetics, 1992-05, Vol.89 (3), p.253-258 [Periódico revisado por pares]NEW YORK: Springer NatureTexto completo disponível |
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9 |
Material Type: Artigo
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DNA typing and genetic mapping with trimeric and tetrameric tandem repeatsEDWARDS, A. I ; CIVITELLO, A ; HAMMOND, H. A ; CASKEY, C. TAmerican journal of human genetics, 1991-10, Vol.49 (4), p.746-756 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |
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10 |
Material Type: Artigo
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Evaluation of 13 short tandem repeat loci for use in personal identification applicationsHAMMOND, H. A ; LI JIN ; ZHONG, Y ; CASKEY, C. T ; RANAJIT CHAKRABORTYAmerican journal of human genetics, 1994-07, Vol.55 (1), p.175-189 [Periódico revisado por pares]Chicago, IL: University of Chicago PressTexto completo disponível |