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1 |
Material Type: Artigo
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Localization of a Susceptibility Gene for Familial Nonmedullary Thyroid Carcinoma to Chromosome 2q21McKay, James D. ; Lesueur, Fabienne ; Jonard, Laurence ; Pastore, Alessandro ; Williamson, Jan ; Hoffman, Linda ; Burgess, John ; Duffield, Anne ; Papotti, Mauro ; Stark, Markus ; Sobol, Hagay ; Maes, Béatrice ; Murat, Arnaud ; Kääriäinen, Helena ; Bertholon-Grégoire, Mireille ; Zini, Michele ; Rossing, Mary Anne ; Toubert, Marie-Elisabeth ; Bonichon, Françoise ; Cavarec, Marie ; Bernard, Anne-Marie ; Boneu, Andrée ; Leprat, Frédéric ; Haas, Oskar ; Lasset, Christine ; Schlumberger, Martin ; Canzian, Federico ; Goldgar, David E. ; Romeo, GiovanniAmerican journal of human genetics, 2001-08, Vol.69 (2), p.440-446 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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2 |
Material Type: Artigo
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Evidence for at Least Eight Fanconi Anemia GenesJoenje, Hans ; Oostra, Anneke B. ; Wijker, Mario ; di Summa, Franca M. ; van Berkel, Carola G.M. ; Rooimans, Martin A. ; Ebell, Wolfram ; van Weel, Margreet ; Pronk, Jan C. ; Buchwald, Manuel ; Arwert, FréAmerican journal of human genetics, 1997-10, Vol.61 (4), p.940-944 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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3 |
Material Type: Artigo
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A Missense Mutation of Cytochrome Oxidase Subunit II Causes Defective Assembly and MyopathyRahman, Shamima ; Taanman, Jan-Willem ; Cooper, J. Mark ; Nelson, Isabelle ; Hargreaves, Ian ; Meunier, Brigitte ; Hanna, Michael G ; García, José J. ; Capaldi, Roderick A. ; Lake, Brian D. ; Leonard, James V. ; Schapira, Anthony H.V.American journal of human genetics, 1999-10, Vol.65 (4), p.1030-1039 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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4 |
Material Type: Artigo
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Linkage Disequilibrium Patterns and tagSNP Transferability among European PopulationsMueller, Jakob C. ; Lõhmussaar, Elin ; Mägi, Reedik ; Remm, Maido ; Bettecken, Thomas ; Lichtner, Peter ; Biskup, Saskia ; Illig, Thomas ; Pfeufer, Arne ; Luedemann, Jan ; Schreiber, Stefan ; Pramstaller, Peter ; Pichler, Irene ; Romeo, Giovanni ; Gaddi, Anthony ; Testa, Alessandra ; Wichmann, Heinz-Erich ; Metspalu, Andres ; Meitinger, ThomasAmerican journal of human genetics, 2005-03, Vol.76 (3), p.387-398 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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5 |
Material Type: Artigo
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High Incidence of Propionic Acidemia in Greenland Is Due to a Prevalent Mutation, 1540insCCC, in the Gene for the β-Subunit of Propionyl CoA CarboxylaseRavn, Kirstine ; Chloupkova, Maja ; Christensen, Ernst ; Brandt, Niels Jacob ; Simonsen, Henrik ; Kraus, Jan P. ; Nielsen, Inge Merete ; Skovby, Flemming ; Schwartz, MarianneAmerican journal of human genetics, 2000-07, Vol.67 (1), p.203-206 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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6 |
Material Type: Artigo
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A Rare Haplotype of the RET Proto-Oncogene Is a Risk-Modifying Allele in Hirschsprung DiseaseGriseri, Paola ; Pesce, Barbara ; Patrone, Giovanna ; Osinga, Jan ; Puppo, Francesca ; Sancandi, Monica ; Hofstra, Robert ; Romeo, Giovanni ; Ravazzolo, Roberto ; Devoto, Marcella ; Ceccherini, IsabellaAmerican journal of human genetics, 2002-10, Vol.71 (4), p.969-974 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |
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7 |
Material Type: Artigo
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A Gene for X-Linked Optic Atrophy Is Closely Linked to the Xp11.4-Xp11.2 Region of the X ChromosomeAssink, Jacqueline J.M. ; Tijmes, Nel T. ; Brink, Jacoline B. ten ; Oostra, Roelof-Jan ; Riemslag, Frans C. ; de Jong, Paulus T.V.M. ; Bergen, Arthur A.B.American journal of human genetics, 1997-10, Vol.61 (4), p.934-939 [Periódico revisado por pares]Chicago, IL: Elsevier IncTexto completo disponível |