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 
Whole-exome sequencing for finding de novo mutations in sporadic mental retardation
Authors: Robinson, P. N.
Date of Publication (YYYY-MM-DD): 2010-12-21
Title of Journal: Genome Biology
Volume: 11
Issue / Number: 12
Start Page: 11:144
End Page: 11:144
Document Type: Article
ID: 541926.0
 
Full text / Content available
Quantitative analysis of TGFBR2 mutations in Marfan-syndrome-related disorders suggests a correlation between phenotypic severity and Smad signaling activity.
Authors: Horbelt, D.; Guo, G.; Robinson, P. N.; Knaus, P.
Date of Publication (YYYY-MM-DD): 2010-12-15
Title of Journal: Journal of Cell Science
Volume: 123
Issue / Number: Pt 24
Start Page: 4340
End Page: 4350
Document Type: Article
ID: 538381.0
 
Full text / Content available
Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions.
Authors: Rödelsperger, C.; Guo, G.; Kolanczyk, M.; Pletschacher, A.; Köhler, S.; Bauer, S.; Schulz, M. H.; Robinson, P. N.
Date of Publication (YYYY-MM-DD): 2010-11-24
Title of Journal: Nucleic Acids Research
Volume: 24
Issue / Number: 2
Start Page: 1
End Page: 11
Document Type: Article
ID: 539117.0
 
Full text / Content available
Marfan syndrome with neonatal progeroid syndrome-like lipodystrophy associated with a novel frameshift mutation at the 3' terminus of the FBN1-gene.
Authors: Graul-Neumann, L. M.; Kienitz, T.; Robinson, P. N.; Baasanjav, S.; Karow, B.; Gillessen-Kaesbach, G.; Fahsold, R.; Schmidt, H.; Hoffmann, K.; Passarge, E.
Date of Publication (YYYY-MM-DD): 2010-11-01
Title of Journal: American Journal of Medical Genetics Part A
Volume: 152A
Issue / Number: 11
Start Page: 2749
End Page: 2755
Document Type: Article
ID: 539679.0
 
Full text / Content available
Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome.
Authors: Rybczynski, M.; Mir, T. S.; Sheikhzadeh, S.; Bernhardt, A. M.; Schad, C.; Treede, H.; Veldhoen, S.; Groene, E. F.; Kühne, K.; Koschyk, D.; Robinson, P. N.; Berger, J.; Reichenspurner, H.; Meinertz, T.; von Kodolitsch, Y.
Date of Publication (YYYY-MM-DD): 2010-10-01
Title of Journal: American Journal of Cardiol
Volume: 106
Issue / Number: 7
Start Page: 1048
End Page: 1053
Document Type: Article
ID: 539683.0
 
Full text / Content available
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
Authors: Krawitz, P. M.; Schweiger, M. R.; Rödelsperger, C.; Marcelis, C.; Kölsch, U.; Meisel, C.; Stephani, F.; Kinoshita, T.; Murakami, Y.; Bauer, S.; Isau, M.; Fischer, A.; Dahl, A.; Kerick, M.; Hecht, J.; Köhler, S.; Jager, M.; Grünhagen, J.; de Condor, B. J.; Doelken, S.; Brunner, H. G.; Meinecke, P.; Passarge, E.; Thompson, M. D.; Cole, D. E.; Horn, D.; Roscioli, T.; Mundlos, S.; Robinson, P. N.
Date of Publication (YYYY-MM-DD): 2010-08-29
Title of Journal: Nature Genetics
Volume: 42
Issue / Number: 10
Start Page: 827
End Page: 829
Document Type: Article
ID: 539693.0
 
Full text / Content available
GOing Bayesian: model-based gene set analysis of genome-scale data.
Authors: Bauer, S.; Gagneur, J.; Robinson, P. N.
Date of Publication (YYYY-MM-DD): 2010-06-01
Title of Journal: Nucleic Acids Research
Volume: 38
Issue / Number: 11
Start Page: 3523
End Page: 3532
Document Type: Article
ID: 541204.0
 
Full text / Content available
The human phenotype ontology.
Authors: Robinson, P. N.; Mundlos, S.
Date of Publication (YYYY-MM-DD): 2010-04-19
Title of Journal: Clinical Genetics
Volume: 77
Issue / Number: 6
Start Page: 525
End Page: 534
Document Type: Article
ID: 541325.0
 
Full text / Content available
Augmentation index and the evolution of aortic disease in marfan-like syndromes.
Authors: Mortensen, K.; Baulmann, J.; Rybczynski, M.; Sheikhzadeh, S.; Aydin, M. A.; Treede, H.; Dombrowski, E.; Kühne, K.; Peitsmeier, P.; Habermann, C. R.; Robinson, P. N.; Stuhrmann, M.; Berger, J.; Meinertz, T.; von Kodolitsch, Y.
Date of Publication (YYYY-MM-DD): 2010-04-15
Title of Journal: American Journal of Hypertension
Volume: 23
Issue / Number: 7
Start Page: 716
End Page: 724
Document Type: Article
ID: 539740.0
Microindel detection in short-read sequence data.
Authors: Krawitz, P.; Rödelsperger, C.; Jäger, M.; Jostins, L.; Bauer, S.; Robinson, P. N.
Date of Publication (YYYY-MM-DD): 2010-03-15
Title of Journal: Bioinformatics
Volume: 26
Issue / Number: 6
Start Page: 722
End Page: 729
Document Type: Article
ID: 541681.0
 
Full text / Content available
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.