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Entries: 1-6  
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Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11.
Authors: Tzschach, Andreas; Bisgaard, Anne-Marie; Kirchhoff, Maria; Graul-Neumann, Luitgard M.; Neitzel, Heidemarie; Page, Stephanie; Ahmed, Alischo; Müller, Ines; Erdogan, Fikret; Ropers, Hans-Hilger; Kalscheuer, Vera M.; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD): 2010-03-01
Title of Journal: European Journal of Human Genetics : EJHG
Volume: 18
Issue / Number: 3
Start Page: 291
End Page: 295
Document Type: Article
ID: 536097.0
Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 function.
Authors: Trimborn, Marc; Ghani, Mahdi; Walther, Diego J.; Dopatka, Monika; Dutrannoy, Véronique; Busche, Andreas; Meyer, Franziska; Nowak, Stefanie; Nowak, Jean N; Zabel, Claus; Klose, Joachim; Esquitino, Veronica; Garshasbi, Masoud; Kuss, Andreas W.; Ropers, Hans-Hilger; Mueller, Susanne; Poehlmann, Charlotte; Gavvovidis, Ioannis; Schindler, Detlev; Sperling, Karl; Neitzel, Heidemarie
Date of Publication (YYYY-MM-DD): 2010-02-16
Title of Journal: PLoS ONE
Volume: 5
Issue / Number: 2
Start Page: e9242.
End Page: e9242.
Document Type: Article
ID: 535983.0
 
Full text / Content available
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
High-throughput sequencing of microdissected chromosomal regions.
Authors: Weise, Anja; Timmermann, Bernd; Grabherr, Manfred; Werber, Martin; Heyn, Patricia; Kosyakova, Nadezdaa; Liehr, Thomas; Neitzel, Heidemarie; Konrat, Kateryna; Bommer, Christiane; Dietrich, Carola; Rajab, Anna; Reinhardt, Richard; Mundlos, Stefan; Lindner, Tom H.; Hoffmann, Katrin
Date of Publication (YYYY-MM-DD): 2009-11-04
Title of Journal: European Journal of Human Genetics
Sequence Number of Article: ejhg.2009.196
Document Type: Article
ID: 460797.0
 
Full text / Content available
Interstitial deletion 2p11.2-p12: Report of a patient with mental retardation and review of the literature
Authors: Tzschach, Andreas; Graul-Neumann, Luitgard M.; Konrat, Kateryna; Richter, Reyk; Ebert, Grit; Ullmann, Reinhard; Neitzel, Heidemarie
Date of Publication (YYYY-MM-DD): 2009-02
Title of Journal: American Journal of Medical Genetics Part A
Volume: 149
Issue / Number: 2
Start Page: 242
End Page: 245
Document Type: Article
ID: 473675.0
Familial MCA/MR syndrome due to inherited submicroscopic translocation t(18;21)(q22.1q21.3) with breakpoint at the Down syndrome critical region
Authors: Horn, Denise; Neitzel, Heidemarie; Tonnies, Holger; Kalscheuer, Vera; Kunze, Jürgen; Hinkel, Georg Klaus; Bartsch, Oliver
Date of Publication (YYYY-MM-DD): 2003-03-15
Title of Journal: American Journal of Medical Genetics Part A
Volume: 117A
Issue / Number: 3
Start Page: 236
End Page: 244
Document Type: Article
ID: 127635.0
Entries: 1-6  
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