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Entries: 1-3  
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Expanded mutational spectrum in Cohen Syndrome, tissue expression, and transcript variants of COH1
Authors: Seifert, Wenke; Holder-Espinasse, Muriel; Kühnisch, Jirko; Kahrizi, Kimia; Tzschach, Andreas; Garshasbi, Masoud; Najmabadi, Hossein; Kuss, Andreas Walter; Kress, Wolfram; Laureys, Geneviève; Loeys, Bart; Brilstra, Eva; Mancini, Grazia M.S.; Dollfus, Hélène; Dahan, Karin; Apse, Kira; Hennies, Hans Christian; Horn, Denise
Date of Publication (YYYY-MM-DD): 2008-11-12
Title of Journal: Human Mutation
Volume: 30
Issue / Number: 2
Start Page: E404
End Page: E420
Document Type: Article
ID: 411209.1
 
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Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect
Authors: Cossée, Mireille; Demeer, Bénédicte; Blanchet, Patricia; Echenne, Bernard; Singh, Deepika; Hagens, Olivier; Antin, Manuela; Finck, Sonja; Vallee, Louis; Dollfus, Hélène; Hegde, Sridevi; Springell, Kelly; Thelma, B. K .; Woods, Geoffrey; Kalscheuer, Vera M.; Mandel, Jean-Louis
Date of Publication (YYYY-MM-DD): 2006-02-22
Title of Journal: European Journal of Human Genetics : the Official Journal of the European Society of Human Genetics
Volume: 14
Issue / Number: 4
Start Page: 418
End Page: 425
Document Type: Article
ID: 307435.0
 
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Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation
Authors: Hagens, Olivier; Dubos, Aline; Abidi, Fatima; Barbi, Gotthold; Van Zutven, Laura; Hoeltzenbein, Maria; Tommerup, Niels; Moraine, Claude; Fryns, Jean-Pierre; Chelly, Jamel; van Bokhoven, Hans; Gécz, Jozef; Dollfus, Hélène; Ropers, Hans-Hilger; Schwartz, Charles E.; de Cassia Stocco dos Santos, Rita; Kalscheuer, Vera M.; Hanauer, André
Date of Publication (YYYY-MM-DD): 2006-01-01
Title of Journal: Human Genetics
Volume: 118
Issue / Number: 5
Start Page: 578
End Page: 590
Document Type: Article
ID: 307641.0
 
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Entries: 1-3  
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