Publications
Journal Article (18)
1.
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 2.
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 3.
Journal Article
5, p. 168 - 168 (2004)
d-matrix – database exploration, visualization and analysis. BMC Bioinformatics 4.
Journal Article
13 (20), pp. 2351 - 2359 (2004)
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Human Molecular Genetics 5.
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 6.
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 7.
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 8.
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 9.
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 10.
Journal Article
36 (2-3), pp. 85 - 97 (2004)
Genetics of congenital hand anomalies. Handchirurgie, Mikrochirurgie, Plastische Chirurgie 11.
Journal Article
125A (3), pp. 261 - 266 (2004)
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A 12.
Journal Article
125A (3), pp. 261 - 266 (2004)
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A 13.
Journal Article
125A (3), pp. 261 - 266 (2004)
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A 14.
Journal Article
41 (3), pp. 213 - 218 (2004)
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. Journal of Medical Genetics 15.
Journal Article
41 (3), pp. 213 - 218 (2004)
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. Journal of Medical Genetics 16.
Journal Article
204 (1), pp. 69 - 77 (2004)
ITIH5, a novel member of the inter-alpha-trypsin inhibitor heavy chain family is downregulated in breast cancer. Cancer Letters: an International Journal Providing a Forum for Original and Pertinent Contributions in Cancer Research 17.
Journal Article
229 (2), pp. 400 - 410 (2004)
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. Developmental Dynamics 18.
Journal Article
124A (4), pp. 356 - 363 (2004)
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. American Journal of Medical Genetics