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Entries: 1-3  
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Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
Authors: Krawitz, P. M.; Schweiger, M. R.; Rödelsperger, C.; Marcelis, C.; Kölsch, U.; Meisel, C.; Stephani, F.; Kinoshita, T.; Murakami, Y.; Bauer, S.; Isau, M.; Fischer, A.; Dahl, A.; Kerick, M.; Hecht, J.; Köhler, S.; Jager, M.; Grünhagen, J.; de Condor, B. J.; Doelken, S.; Brunner, H. G.; Meinecke, P.; Passarge, E.; Thompson, M. D.; Cole, D. E.; Horn, D.; Roscioli, T.; Mundlos, S.; Robinson, P. N.
Date of Publication (YYYY-MM-DD): 2010-08-29
Title of Journal: Nature Genetics
Volume: 42
Issue / Number: 10
Start Page: 827
End Page: 829
Document Type: Article
ID: 539693.0
 
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Hyperphosphatasia with mental retardation, brachytelephalangy, and a distinct facial gestalt: Delineation of a recognizable syndrome.
Authors: Horn, D.; Schottmann, G.; Meinecke, P.
Date of Publication (YYYY-MM-DD): 2010-03-01
Title of Journal: European Journal of Medical Genetics
Volume: 53
Issue / Number: 2
Start Page: 85
End Page: 88
Document Type: Article
ID: 541927.0
 
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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: 1-3  
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