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Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficits
Authors: Horn, D.; Kapeller, J.; Rivera-Brugues, N.; Moog, U.; Lorenz-Depiereux, B.; Eck, S.; Hempel, M.; Wagenstaller, J.; Gawthrope, A.; Monaco, A. P.; Bonin, M.; Riess, O.; Wohlleber, E.; Illig, T.; Bezzina, C. R.; Franke, A.; Spranger, S.; Villavicencio-Lorini, P.; Seifert, W.; Rosenfeld, J.; Klopocki, E.; Rappold, G. A.; Strom, T. M.
Date of Publication (YYYY-MM-DD): 2010-11-01
Title of Journal: Human Mutation
Volume: 31
Issue / Number: 11
Start Page: E1851
End Page: E1860
Document Type: Article
ID: 539476.0
 
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Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome
Authors: Seifert, W.; Holder-Espinasse, M.; Spranger, S.; Hoeltzenbein, Maria; Rossier, E.; Dollfus, H.; Lacombe, H.; Verloes, A.; Chrzanowska, K. H.; Maegawa, G. H. B.; Chitayat, D.; Kotzot, D.; Huhle, D.; Meinecke, P.; Albrecht, B.; Mathijssen, I.; Leheup, B.; Raile, K.; Hennies, H. C.; Horn, D.
Date of Publication (YYYY-MM-DD): 2006-01-25
Title of Journal: Journal of Medical Genetics
Volume: 43
Issue / Number: 5
Start Page: e22
End Page: e22
Document Type: Article
ID: 308496.0
 
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Entries: 1-2  
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