Journal Article (420)
361.
Journal Article
78 (4), pp. 708 - 712 (2006)
GDF5 Is a Second Locus for Multiple-Synostosis Syndrome. American Journal of Human Genetics (Chicago, IL) 362.
Journal Article
140A (8), pp. 873 - 877 (2006)
A novel 8 Mb interstitial deletion of chromosome 8p12-p21.2. American Journal of Medical Genetics Part A 363.
Journal Article
43 (3), pp. 225 - 231 (2006)
A mutation in the receptor binding site of GDF5 causes Mohr-Wriedt brachydactyly type A2. Journal of Medical Genetics (London) 364.
Journal Article
40 (2), pp. 234 - 246 (2006)
A fibrillin-1-fragment containing the elastin-binding-protein GxxPG consensus sequence upregulates matrix metalloproteinase-1: biochemical and computational analysis. Journal of Molecular and Cellular Cardiology (London) 365.
Journal Article
43 (2), pp. 111 - 118 (2006)
Breakpoints around the HOXD cluster result in various limb malformations. Journal of Medical Genetics 366.
Journal Article
43 (2), pp. 111 - 118 (2006)
Breakpoints around the HOXD cluster result in various limb malformations. Journal of Medical Genetics 367.
Journal Article
580 (2), pp. 455 - 462 (2006)
Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate. FEBS Letters 368.
Journal Article
26 (2), pp. 643 - 653 (2006)
Rap1A-deficient T and B cells show impaired integrin-mediated cell adhesion. Molecular and Cellular Biology 369.
Journal Article
115 (9), pp. 2373 - 2381 (2005)
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. Journal of Clinical Investigation 370.
Journal Article
15 (3), pp. 337 - 362 (2005)
How to improve quality assurance in fluorometry: fluorescence-inherent sources of error and suited fluorescence standards. Journal of Fluorescence 371.
Journal Article
9 (12), pp. 1227 - 1238 (2004)
Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2. Genes to Cells 372.
Journal Article
13 (22), pp. 2841 - 2851 (2004)
Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Human Molecular Genetics 373.
Journal Article
5, p. 168 - 168 (2004)
d-matrix – database exploration, visualization and analysis. BMC Bioinformatics 374.
Journal Article
13 (20), pp. 2351 - 2359 (2004)
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Human Molecular Genetics 375.
Journal Article
13 (17), pp. 1969 - 1978 (2004)
Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis. Human Molecular Genetics 376.
Journal Article
101 (27), pp. 10155 - 10160 (2004)
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proceedings of the National Academy of Sciences 377.
Journal Article
75 (1), pp. 27 - 34 (2004)
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. American Journal of Human Genetics 378.
Journal Article
126A (4), pp. 413 - 419 (2004)
Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement. American Journal of Medical Genetics 379.
Journal Article
23 (5), pp. 471 - 476 (2004)
Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. Human Mutation 380.
Journal Article
36 (2-3), pp. 85 - 97 (2004)
Genetics of congenital hand anomalies. Handchirurgie, Mikrochirurgie, Plastische Chirurgie