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Entries: 1-10  
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Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencing
Authors: Chen, Wei; Ullmann, Reinhard; Langnick, Claudia; Menzel, Corinna; Wotschofsky, Zofia; Hu, Hao; Döring, Andreas; Hu, Yuhui; Kang, Hui; Tzschach, Andreas; Hoeltzenbein, Maria; Neitzel, Heidemarie; Markus, Susanne; Wiedersberg, Eberhard; Kistner, Gerd; van Ravenswaaij-Arts, Conny M. A.; Kleefstra, Tjitske; Kalscheuer, Vera M.; Ropers, Hans-Hilger
Date of Publication (YYYY-MM-DD): 2010
Title of Journal: European Journal of Human Genetics
Document Type: Article
ID: 469015.0
Multiple giant cell lesions in patients with Noonan syndrome and cardio-facio-cutaneous syndrome
Authors: Neumann, Thomas E; Allanson, Judith; Kavamura, Ines; Kerr, Bronwyn; Neri, Giovanni; Noonan, Jacqueline; Cordeddu, Viviana; Gibson, Kate; Tzschach, Andreas; Krüger, Gabriele; Hoeltzenbein, Maria; Goecke, Timm O; Kehl, Hans Gerd; Albrecht, Beate; Luczak, Klaudiusz; Sasiadek, Maria M.; Musante, Luciana; Laurie, Rohan; Peters, Hartmut; Tartaglia, Marco; Zenker, Martin; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2009-04
Title of Journal: European Journal of Human Genetics
Volume: 17
Issue / Number: 4
Start Page: 420
End Page: 425
Document Type: Article
ID: 411070.1
 
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Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly
Authors: Mller, Rikke S.; Kübart, Sabine; Hoeltzenbein, Maria; Heye, Babett; Vogel, Ida; Hansen, Christian P.; Menzel, Corinna; Ullmann, Reinhard; Tommerup, Niels; Ropers, Hans-Hilger; Tümer, Zeynep; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2008-04-16
Title of Journal: The American Journal of Human Genetics
Volume: 82
Issue / Number: 5
Start Page: 1165
End Page: 1170
Document Type: Article
ID: 411024.0
Characterization of a 16 Mb interstitial chromosome 7q21 deletion by tiling path array CGH.
Authors: Tzschach, Andreas; Menzel, Corinna; Erdogan, Fikret; Schubert, Marei; Hoeltzenbein, Maria; Barbi, Gotthold; Petzenhauser, Christine; Ropers, Hans-Hilger; Ullmann, Reinhard; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2007-01-17
Title of Journal: American Journal of Medical Genetics
Volume: 143 A
Issue / Number: 4
Start Page: 333
End Page: 337
Document Type: Article
ID: 334803.0
 
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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
 
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Molecular cytogenetic analysis of a de novo interstitial chromosome 10q22 deletion
Authors: Tzschach, Andreas; Krause-Plonka, Ines; Menzel, Corinna; Knoblauch, Andreas; Toennies, Holger; Hoeltzenbein, Maria; Radke, Michael; Ropers, Hans-Hilger; Kalscheuer, Vera M.
Date of Publication (YYYY-MM-DD): 2006-04-17
Title of Journal: American Journal of Medical Genetics Part A
Volume: 140
Issue / Number: 10
Start Page: 1108
End Page: 1110
Document Type: Article
ID: 309212.0
 
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Molecular cytogenetic analysis of a de novo interstitial deletion 5q23.3q31.2 and its phenotypic consequences
Authors: Tzschach, Andreas; Krause-Plonka, Ines; Menzel, Corinna; Kalscheuer, Vera M.; Toennies, Holger; Scherthan, Harry; Knoblauch, Andreas; Radke, Michael; Ropes, Hans-Hilger; Hoeltzenbein, Maria
Date of Publication (YYYY-MM-DD): 2006-02-06
Title of Journal: American Journal of Medical Genetics
Volume: 140
Issue / Number: 5
Start Page: 496
End Page: 502
Document Type: Article
ID: 308877.0
 
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
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
 
Full text / Content available
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: 1-10  
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