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A 3.2 Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia. |
Authors: Gilling, Mette; Lauritsen, Marlene Briciet; Møller, Morten; Henriksen, Karen Friis; Vicente, Astrid; Oliveira, Guiomar; Cintin, Christina; Eiberg, Hans; Andersen, Paal Skyt; Mors, Ole; Rosenberg, Thomas; Brøndum-Nielsen, Karen; Cotterill, Rodney M J; Lundsteen, Claes; Ropers, Hans-Hilger; Ullmann, Reinhard; Bache, Iben; Tümer, Zeynep; Tommerup, Niels | Date of Publication (YYYY-MM-DD): 2008-01-09 | Title of Journal: European Journal of Human Genetics | Volume: 16 | Issue / Number: 3 | Start Page: 312 | End Page: 319 | Document Type: Article | ID: 408344.0 |
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TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies |
Authors: Katzke, Stefanie; Booms, Patrick; Tiecke, Frank; Palz, Monika; Pletschacher, Angelika; Türkmen, Seval; Neumann, Luitgard M.; Pregla, Reinhard; Leitner, Christa; Schramm, Cornelia; Lorenz, Peter; Hagemeier, Christian; Fuchs, Josefine; Skovby, Flemming; Rosenberg, Thomas; Robinson, Peter N. | Date of Publication (YYYY-MM-DD): 2002-08-21 | Title of Journal: Human Mutation | Volume: 20 | Issue / Number: 3 | Start Page: 197 | End Page: 208 | Document Type: Article | ID: 24751.0 |
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