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Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
Authors: Neumann, Thomas E; Allanson, Judith; Kavamura, Ines; Kerr, Bronwyn; Neri, Giovanni; Noonan, Jacqueline; Cordeddu, Viviana; Gibson, Kate; Tzschach, Andreas; Krüger, Gabriele; Hoeltzenbein, Maria; Goecke, Timm O; Kehl, Hans Gerd; Albrecht, Beate; Luczak, Klaudiusz; Sasiadek, Maria M.; Musante, Luciana; Laurie, Rohan; Peters, Hartmut; Tartaglia, Marco; Zenker, Martin; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2009-04
Title of Journal: European Journal of Human Genetics
Volume: 17
Issue / Number: 4
Start Page: 420
End Page: 425
Document Type: Article
ID: 411070.1


Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation
Authors: Brunetti-Pierri, Nicola; del Gaudio, Daniela; Peters, Hartmut; Justino, Henri; Ott, Claus-Eric; Mundlos, Stefan; Bacino, Carlos A.
Date of Publication (YYYY-MM-DD): 2008-10-01
Title of Journal: American Journal of Medical Genetics Part A
Volume: 146A
Issue / Number: 21
Start Page: 2804
End Page: 2809
Document Type: Article
ID: 411620.0


Blepharophimosis-ptosis, epicanthus inversus syndrome in a girl with chromosome translocation t(2;3) (q33;q23)
Authors: Tzschach, Andreas; Kelbova, Christina; Weidensee, Sabine; Peters, Hartmut; Ropers, Hans-Hilger; Ullmann, Reinhard; Erdogan, Fikret; Jurkatis, Jan; Menzel, Corinna; Kalscheuer, Vera M.; Demuth, Stephanie
Date of Publication (YYYY-MM-DD): 2008-03-01
Title of Journal: Ophthalmic Genetics
Volume: 29
Issue / Number: 1
Start Page: 37
End Page: 40
Document Type: Article
ID: 411286.0


Trinucleotide repeat expansions in the junctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype
Authors: Bauer, Ingrid; Gencik, Martin; Laccone, Franco; Peters, Hartmut; Weber, Bernhard H. F.; Holinski Feder, Elke; Weirich, Helga; Morris-Rosendahl, Deborah J.; Rolfs, Arndt; Gencikova, Alexandra; Bauer, Peter; Wenning, Gregor K.; Epplen, Jörg T.; Holmes, Susan E.; Margolis, Russell L.; Ross, Christopher A.; Riess, Olaf
Date of Publication (YYYY-MM-DD): 2002-04-23
Title of Journal: Annals of Neurology
Volume: 51
Issue / Number: 5
Start Page: 662
End Page: 662
Document Type: Article
ID: 24441.0