Home News About Us Contact Contributors Disclaimer Privacy Policy Help FAQ

Home
Search
Quick Search
Advanced
Fulltext
Browse
Collections
Persons
My eDoc
Session History
Login
Name:
Password:
Documentation
Help
Support Wiki
Direct access to
document ID:


          Display Documents


Institute:
Collection:
Print in Citation style Print version     Display:
Sort by: Display records with Fulltext only
Entries: 1-10  
 Basket 
High frequency of submicroscopic genomic aberrations detected by tiling path array CGH in patients with isolated congenital heart disease
Authors: Erdogan, F; Larsen, L A; Zhang, L; Tümer, Z; Tommerup, N; Chen, Wei; Jacobsen, J R; Schubert, M; Jurkatis, J; Tzschach, Andreas; Ropers, Hans Hilger; Ullmann, Reinhard
Date of Publication (YYYY-MM-DD): 2008-08-19
Title of Journal: Journal of Medical Genetics
Volume: 11
Start Page: 705
End Page: 709
Document Type: Article
ID: 407401.0
 
Full text / Content available
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.
Authors: Frints, Suzanna Gerarda Maria; Lenzner, Steffen; Bauters, Mareike; Jensen, Lars Riff; Van Esch, Hilde; des Portes, Vincent; Moog, Ute; Macville, Merryn Victor Erik; van Roozendaal, Kees; Schrander-Stumpel, Constance Theresia Rimbertha Maria; Tzschach, Andreas; Marynen, Peter; Fryns, Jean-Pierre; Hame, Ben; van Bokhoven, Hans; Chelly, Jamel; Beldjord, Chérif; Turner, Gillian; Gecz, Jozef; Moraine, Claude; Raynaud, Martine; Ropers, Hans Hilger; Froyen, Guy; Kuss, Andreas Walter
Date of Publication (YYYY-MM-DD): 2008-04-09
Title of Journal: European Journal of Human Genetics
Volume: 16
Issue / Number: 9
Start Page: 1029
End Page: 1037
Document Type: Article
ID: 407419.0
 
Full text / Content available
Gene expression profile of mouse bone marrow stromal cells determined by cDNA microarray analysis
Authors: Wieczorek, G.; Steinhoff, C.; Schulz, R.; Scheller, M.; Vingron, Martin; Ropers, Hans Hilger; Nuber, Ulrike A.
Date of Publication (YYYY-MM-DD): 2003-03
Title of Journal: European Journal of Cell Biology
Volume: 82
Issue / Number: Suppl. 53
Start Page: 41
End Page: 41
Document Type: Article
ID: 194770.0
X-linked gene expression analysis in domestic cattle using human X chromosome-specific cDNA microarrays
Authors: Nino, M. I.; Nuber, Ulrike A.; Robert, C.; Ropers, Hans Hilger; King, W. A.
Date of Publication (YYYY-MM-DD): 2003
Title of Journal: Biology of Reproduction
Volume: 68
Issue / Number: Suppl. 1
Start Page: 277
End Page: 277
Document Type: Article
ID: 194853.0
Global Gene Expression Analysis in a Mouse Model for Norrie Disease: Late Involvement of Photoreceptor Cells
Authors: Lenzner, Steffen; Prietz, Sandra; Feil, Silke; Nuber, Ulrike A.; Ropers, Hans Hilger; Berger, Wolfgang
Date of Publication (YYYY-MM-DD): 2002-09
Title of Journal: Investigative Ophthalmology & Visual Science
Volume: 43
Issue / Number: 9
Start Page: 2825
End Page: 2833
Document Type: Article
ID: 24164.0
Four-Hundred Million Years of Conserved Synteny of Human Xp and Xq Genes on Three Tetraodon Chromosomes
Authors: Grützner, Frank; Roest Crollius, Hugues; Lütjens, Götz; Jaillon, Olivier; Weissenbach, Jean; Ropers, Hans Hilger; Haaf, Thomas
Date of Publication (YYYY-MM-DD): 2002-08-21
Title of Journal: Genome Research
Volume: 12
Issue / Number: 9
Start Page: 1316
End Page: 1322
Document Type: Article
ID: 24159.0
A cryptic deletion of 2q35 including part of the PAX3
gene detected by breakpoint mapping in a child with
autism and a de novo 2;8 translocation
Authors: Borg, I.; Squire, M.; Menzel, C.; Stout, K.; Morgan, D.; Willatt, L.; O’Brien, P. C. M.; Ferguson-Smith, M. A.; Ropers, Hans Hilger; Tommerup, N.; Kalscheuer, Vera M.; Sargan, D. R.
Date of Publication (YYYY-MM-DD): 2002-06
Title of Journal: Journal of Medical Genetics
Volume: 39
Issue / Number: 6
Start Page: 391
End Page: 399
Document Type: Article
ID: 24147.0
Genomic structure, chromosome mapping and expression analysis of the human AVIL gene, and its exclusion as a candidate for locus for inflammatory bowel disease at 12q13–14 (IBD2)
Authors: Tümer, Zeynep; Croucher, Peter J. P.; Jensen, Lars Riff; Hampe, Jochen; Hansen, Claus; Kalscheuer, Vera; Ropers, Hans Hilger; Tommerup, Niels; Schreiber, Stefan
Date of Publication (YYYY-MM-DD): 2002-03-12
Title of Journal: Gene
Volume: 288
Issue / Number: 1-2
Start Page: 179
End Page: 185
Document Type: Article
ID: 24266.0
FACL4, encoding fatty acid-CoA ligase 4, is mutated in
nonspecific X-linked mental retardation
Authors: Meloni, Ilaria; Muscettola, Maddalena; Raynaud, Martine; Longo, Ilaria; Bruttini, Mirella; Moizard, Marie-Pierre; Gomot, Marie; Chelly, Jamel; des Portes, Vincent; Fryns, Jean-Pierre; Ropers, Hans Hilger; Magi, Barbara; Bellan, Cristina; Volpi, Nila; Yntema, Helger G.; Lewis, Sarah E.; Schaffer, Jean E.; Renieri, Alessandra
Date of Publication (YYYY-MM-DD): 2002-03
Title of Journal: Nature Genetics
Volume: 30
Issue / Number: 4
Start Page: 436
End Page: 440
Document Type: Article
ID: 24181.0
Formation of higher-order nuclear Rad51 structures is functionally linked to p21 expression and protection from DNA damage-induced apoptosis
Authors: Raderschall, Elke; Bazarov, Alex; Cao, Jiangping; Lurz, Rudi; Smith, Avril; Mann, Wolfgang; Ropers, Hans Hilger; Sedivy, John M.; Golub, Efim I.; Fritz, Eberhard; Haaf, Thomas
Date of Publication (YYYY-MM-DD): 2002-01
Title of Journal: Journal of Cell Science
Volume: 115
Issue / Number: 1
Start Page: 153
End Page: 164
Document Type: Article
ID: 24240.0
Entries: 1-10  
The scope and number of records on eDoc is subject to the collection policies defined by each institute - see "info" button in the collection browse view.