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Entries: 1-8  
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A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation
Authors: Kalscheuer, Vera M.; Musante, Luciana; Fang, Cheng; Hoffmann, Kirsten; Fuchs, Celine; Carta, Eloisa; Deas, Emma; Venkateswarlu, Kanamarlapudi; Menzel, Corinna; Ullmann, Reinhard; Tommerup, Niels; Dalprà, Leda; Tzschach, Andreas; Selicorni, Angelo; Lüscher, Bernhard; Ropers, Hans-Hilger; Harvey, Kirsten; Harvey, Robert J.
Date of Publication (YYYY-MM-DD): 2009-01
Title of Journal: Human Mutation
Volume: 30
Issue / Number: 1
Start Page: 61
End Page: 68
Document Type: Article
ID: 472570.0
Heterotaxy and cardiac defect in a girl with chromosome translocation t(X;1)(q26;p13.1) and involvement of ZIC3
Authors: Tzschach, Andreas; Hoeltzenbein, Maria; Hoffmann, Kirsten; Menzel, Corinna; Beyer, Alexander; Ocker, Volker; Wurster, Goetz; Raynaud, Martine; Ropers, Hans-Hilger; Kalscheuer, Vear M.
Date of Publication (YYYY-MM-DD): 2006-08-23
Title of Journal: European Journal of Human Genetics : EJHG ; the Official Journal of the European Society of Human Genetics
Volume: 14
Issue / Number: 12
Start Page: 1317
End Page: 1320
Document Type: Article
ID: 308507.0
 
Full text / Content available
Molecular characterization of a balanced chromosome translocation in psoriasis vulgaris
Authors: Tzschach,, Andreas; Hoffmann, Kirsten; Hoeltzenbein, Maria; Bache, I.; Tommerup, Niels; Bommer, C.; Körner, H.; Kalscheuer, Vera M.; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2006-02-01
Title of Journal: Clinical Genetics
Volume: 69
Issue / Number: 2
Start Page: 189
End Page: 193
Document Type: Article
ID: 308874.0
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome
Authors: Borg, Isabella; Freude, Kristine; Kuebart, Sabine; Hoffmann, Kirsten; Menzel, Corinna; Laccone, Franco; Firth, Helen; Ferguson-Smith, Malcolm A.; Tommerup, Niels; Ropers, Hans-Hilger; Sargan, David; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2005-05-04
Title of Journal: European Journal of Human Genetics
Volume: 13
Issue / Number: 8
Start Page: 921
End Page: 927
Document Type: Article
ID: 268559.0
 
Full text / Content available
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation
Authors: Tao, Jiong; Van Esch, Hilde; Hagedorn-Greiwe, M.; Hoffmann, Kirsten; Moser, Bettina; Raynaud, Martine; Sperner, Jürgen; Fryns, Jean-Pierre; Schwinger, Eberhard; Gécz, Jozef; Ropers, Hans-Hilger; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2004-10-21
Title of Journal: American Journal of Human Genetics
Volume: 75
Issue / Number: 6
Start Page: 1149
End Page: 1154
Document Type: Article
ID: 225647.0
Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation
Authors: Freude, Kristine; Hoffmann, Kirsten; Jensen, Lars-Riff; Delatycki, Martin B.; des Portes, Vincent; Moser, Bettina; Hamel, Ben; van Bokhoven, Hans; Moraine, Claude; Fryns, Jean-Pierre; Chelly, Jamel; Gécz, Jozef; Lenzner, Steffen; Kalscheuer, Vera M.; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2004-05-25
Title of Journal: American Journal of Human Genetics
Volume: 75
Issue / Number: 2
Start Page: 305
End Page: 309
Document Type: Article
ID: 224389.0
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation
Authors: Kalscheuer, Vera M.; Freude, Kristine; Musante, Luciana; Jensen, Lars R.; Yntema, Helger G.; Gecz, Jozef; Sefiani, Abdelaziz; Hoffmann, Kirsten; Moser, Bettina; Haas, Stefan; Gurok, Ulf; Haesler, Sebastian; Aranda, Beatriz; Nshedjan, Arpik; Tzschach, Andreas; Hartmann, Nils; Roloff, Tim-Christoph; Shoichet, Sarah; Hagens, Olivier; Tao, Jiong; van Bokhoven, Hans; Turner, Gillian; Chelly, Jamel; Moraine, Claude; Fryns, Jean-Pierre; Nuber, Ulrike; Hoeltzenbein, Maria; Scharff, Constance; Scherthan, Harry; Lenzner, Steffen; Hamel, Ben C. J.; Schweiger, Susann; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2003-12
Title of Journal: Nature Genetics
Volume: 35
Issue / Number: 4
Start Page: 313
End Page: 315
Document Type: Article
ID: 127750.0
 
Full text / Content available
Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation
Authors: Shoichet, Sarah A.; Hoffmann, Kirsten; Menzel, Corinna; Trautmann, Udo; Moser, Bettina; Hoeltzenbein, Maria; Echenne, Bernard; van Bokhoven, Hans; Moraine, Claude; Fryns, Jean-Pierre; Chelly, Jamel; Rott, Hans-Dieter; Ropers, Hans-Hilger; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2003-11
Title of Journal: American Journal of Human Genetics
Volume: 73
Issue / Number: 6
Start Page: 1341
End Page: 1354
Document Type: Article
ID: 173608.0
Entries: 1-8  
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