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Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders
Authors: Michalk1, Anne; Stricker, Sigmar; Becker, Jutta; Rupps, Rosemarie; Pantzar, Tapio; Miertus, Jan; Botta, Giovanni; Naretto, Valeria G.; Janetzki, Catrin; Yaqoob, Nausheen; Ott, Claus-Eric; Seelow, Dominik; Wieczorek, Dagmar; Fiebig, Britta; Wirth, Brunhilde; Hoopmann, Markus; Walther, Marisa; Körber, Friederike; Blankenburg, Markus; Mundlos, Stefan; Heller, Raoul; Hoffmann, Katrin
Date of Publication (YYYY-MM-DD): 2008-02-08
Title of Journal: The American Journal of Human Genetics,
Volume: 82
Issue / Number: 2
Start Page: 464
End Page: 476
Document Type: Article
ID: 411658.0


A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2
Authors: Klopocki, Eva; Fiebig, Britta; Robinson, Peter N.; Tönnies, Holger; Erdogan, Fikret; Ropers, Hans-Hilger; Mundlos, Stefan; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD): 2006-04
Title of Journal: American Journal of Medical Genetics Part A
Volume: 140A
Issue / Number: 8
Start Page: 873
End Page: 877
Document Type: Article
ID: 313088.0