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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation
Authors: Berkel, Simone; Marshall, Christian R.; Weiss, Birgit; Howe, Jennifer; Roeth, Ralph; Moog, Ute; Endris, Volker; Roberts, Wendy; Szatmari, Peter; Pinto, Dalila; Bonin, Michael; Riess, Angelika; Engels, Hartmut; Sprengel, Rolf; Scherer, Stephen W.; Rappold, Gudrun A.
Date of Publication (YYYY-MM-DD): 2010-05-16
Title of Journal: Nature Genetics
Volume: 42
Issue / Number: 6
Start Page: 489
End Page: 491
Document Type: Article
ID: 545955.0
Severe mental retardation with breathing abnormalities (Pitt−Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4
Authors: Brockschmidt, Antje; Todt, Unda; Ryu, Soojin; Hoischen, Alexander; Landwehr, Christina; Birnbaum, Stefanie; Frenck, Wilhelm; Radlwimmer, Bernhard; Lichter, Peter; Engels, Hartmut; Driever, Wolfgang; Kubisch, Christian; Weber, Ruthild G.
Date of Publication (YYYY-MM-DD): 2007-06-15
Title of Journal: Hum. Mol. Genet.
Volume: 16
Issue / Number: 12
Start Page: 1488
End Page: 1494
Document Type: Article
ID: 569574.0
First report of a partial trisomy 3q12-q23 de novo—FISH breakpoint determination and phenotypic characterization
Authors: Gamerdinger, Ulrike; Bosse, Kristin; Eggermann, Thomas; Kalscheuer, Vera M.; Schwanitz, Gesa; Engels, Hartmut
Date of Publication (YYYY-MM-DD): 2006-05-03
Title of Journal: European Journal of Medical Genetics
Volume: 49
Issue / Number: 3
Start Page: 225
End Page: 234
Document Type: Article
ID: 307615.0
 
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Further delineation of the phenotype maps for partial trisomy 16q24 and Jacobsen syndrome by a subtle familial translocation t(11;16)(q24.2;q24.1
Authors: Zahn, Susanne; Ehrbrecht, Antje; Bosse, Kristin; Kalscheuer, Vera M.; Propping, Peter; Schwanitz, Gesa; Albrecht, Beate; Engels, Hartmut
Date of Publication (YYYY-MM-DD): 2005-10-12
Title of Journal: American Journal of Medical Genetics : Part A
Volume: 139
Issue / Number: 1
Start Page: 19
End Page: 24
Document Type: Article
ID: 272000.0
 
Full text / Content available
Comprehensive analysis of human subtelomeres with combined binary ratio labelling fluorescence in situ hybridisation
Authors: Engels, Hartmut; Ehrbrecht, Antje; Zahn, Susanne; Bosse, Kristin; Vrolijk, Hans; White, Stefan; Kalscheuer, Vera; Hoovers, Jan M. N.; Schwanitz, Gesa; Propping, Peter; Tanke, Hans J.; Wiegant, Joop; Raap, Anton K.
Date of Publication (YYYY-MM-DD): 2003-09
Title of Journal: European Journal of Human Genetics
Volume: 11
Issue / Number: 9
Start Page: 643
End Page: 651
Document Type: Article
ID: 126750.0
Entries: 1-5  
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