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Entries: 1-3  
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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
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies
Authors: Robinson, Peter N.; Booms, Patrick; Katzke, Stefanie; Ladewig, Markus; Neumann, Luitgard M.; Palz, Monika; Pregla, Reinhard; Tiecke, Frank; Rosenberg, Thomas
Date of Publication (YYYY-MM-DD): 2002-08-21
Title of Journal: Human Mutation
Volume: 20
Issue / Number: 3
Start Page: 153
End Page: 161
Document Type: Article
ID: 25649.0
Entries: 1-3  
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