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Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement
Authors: Thiele, Holger; Sakano, Masahiro; Kitagawa, Hiroshi; Sugahara, Kazuyuki; Rajab, Anna; Höhne, Wolfgang; Ritter, Heide; Leschik, Gundula; Nürnberg, Peter; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2004-07-06
Title of Journal: Proceedings of the National Academy of Sciences
Volume: 101
Issue / Number: 27
Start Page: 10155
End Page: 10160
Document Type: Article
ID: 228878.0
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1
Authors: Schwabe, Georg C.; Türkmen, Seval; Leschik, Gundula; Palanduz, Sukru; Stöver, Brigitte; Goecke, Timm O.; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2004-02-01
Title of Journal: American Journal of Medical Genetics
Volume: 124A
Issue / Number: 4
Start Page: 356
End Page: 363
Document Type: Article
ID: 228869.0
Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy
Authors: Sander, Thomas; Toliat, Mohammad Reza; Heils, Armin; Leschik, Gundula; Becker, Christian; Rüschendorf, Franz; Rohde, Klaus; Mundlos, Stefan; Nürnberg, Peter
Date of Publication (YYYY-MM-DD): 2002-10-01
Title of Journal: Epilepsy Research
Volume: 51
Issue / Number: 3
Start Page: 249
End Page: 255
Document Type: Article
ID: 25766.0
Entries: 1-3  
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