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Entries: 1-3  
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Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes
Authors: Tuerkmen, Seval; Gillessen-Kaesbach, Gabriele; Meinecke, Peter; Albrecht, Beate; Neumann, Luitgard M.; Hesse, Volker; Palanduz, Suekrue; Balg, Stefanie; Majewski, Frank; Fuchs, Sigrun; Zschieschang, Petra; Greiwe, Monika; Mennicke, Kirsteen; Kreuz, Friedmar R.; Dehmel, Harald J.; Rodeck, Burkhard; Kunze, Juergen; Tinschert, Sigrid; Mundlos, Stefan; Horn, Denise
Date of Publication (YYYY-MM-DD): 2003-11
Title of Journal: European Journal of Human Genetics
Volume: 11
Issue / Number: 11
Start Page: 858
End Page: 865
Document Type: Article
ID: 175489.0
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2
Authors: Lehmann, Katarina; Seemann, Petra; Stricker, Sigmar; Sammar, Marai; Meyer, Birgit; Suering, Katrin; Majewski, Frank; Tinschert, Sigrid; Grzeschik, Karl-Heinz H.; Mueller, Dietmar; Knaus, Petra; Nurnberg, Peter; Mundlos, Stefan
Date of Publication (YYYY-MM-DD): 2003-10-14
Title of Journal: Proceedings of the National Academy of Sciences of the United States of America
Volume: 100
Issue / Number: 21
Start Page: 12277
End Page: 12282
Document Type: Article
ID: 174918.0
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutanesous syndrome
Authors: Musante, Luciana; Kehl, Hans G.; Majewski, Frank; Meinecke, Peter; Schweiger, Susann; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Hinkel, Georg K.; Tinschert, Siegrid; Hoeltzenbein, Maria; Ropers, Hans-Hilger; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2003-02
Title of Journal: European Journal of Human Genetics
Volume: 11
Issue / Number: 2
Start Page: 201
End Page: 206
Document Type: Article
ID: 127778.0
Entries: 1-3  
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