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Entries: 1-4  
A cryptic unbalanced translocation resulting in del 13q and dup 15q
Authors: Tészás, Alexandra; Møller, Rikke S; Kellermayer, Richard; Czakó, Márta; Kjaer, Klaus W.; Ullmann, Reinhard; Melegh, Béla; Tommerup, Niels; Kosztolányi, György
Date of Publication (YYYY-MM-DD): 2008-09-15
Title of Journal: American Journal of Medical Genetics Part A
Volume: 146A
Issue / Number: 19
Start Page: 2570
End Page: 2573
Document Type: Article
ID: 411254.0
Brachydactyly type A2 associated with a defect in proGDF5 processing
Authors: Plöger, Frank; Seemann, Petra; Schmidt-von Kegler, Mareen; Lehmann, Katarina; Seidel, Jörg; Kjaer, Klaus W.; Pohl, Jens; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2008-01-18
Title of Journal: Human Molecular Genetics
Volume: 17
Issue / Number: 9
Start Page: 122
End Page: 133
Document Type: Article
ID: 411663.0
Full text / Content available
Suggestive linkage to a neighboring region of IRF6 in a cleft lip and palate multiplex family.
Authors: Jakobsen, Linda P.; Ullmann, Reinhard; Kjaer, Klaus W.; Knudsen, Mary A.; Tommerup, Niels; Eiberg, Hans
Date of Publication (YYYY-MM-DD): 2007-06-01
Title of Journal: American Journal of Medical Genetics Part A
Volume: 143
Issue / Number: 22
Start Page: 2716
End Page: 2721
Document Type: Article
ID: 334081.0
Full text / Content available
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2
Authors: Seemann, Petra; Schwappacher, Raphaela; Kjaer, Klaus W.; Krakow, Deborah; Lehmann, Katarina; Dawson, Katherine; Stricker, Sigmar; Pohl, Jens; Ploeger, Frank; Staub, Eike; Nickel, Joachim; Sebald, Walter; Knaus, Petra; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2005-06-21
Title of Journal: Journal of Clinical Investigation
Volume: 115
Issue / Number: 9
Start Page: 2373
End Page: 2381
Document Type: Article
ID: 268509.0
Full text / Content available
Entries: 1-4  
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