Publications
Journal Article (18)
1.
Journal Article
11 (11), pp. 858 - 865 (2003)
Mutations in NSD1 are responsible for Sotos syndrome, but are not a frequent finding in other overgrowth phenotypes. European Journal of Human Genetics 2.
Journal Article
100 (21), pp. 12277 - 12282 (2003)
Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. Proceedings of the National Academy of Sciences of the United States of America 3.
Journal Article
40 (10), p. e116 - e116 (2003)
Heterogeneity of breakpoints in non-LCR-mediated large constitutional deletions of the 17q11.2 NF1 tumour suppressor region. Journal of Medical Genetics 4.
Journal Article
73 (3), pp. 447 - 474 (2003)
Genetic disorders of the skeleton: a developmental approach. American Journal of Human Genetics 5.
Journal Article
49 (5), pp. 1201 - 1212 (2003)
Specific targeting of a DNA-binding protein to the SPP1 procapsid by interaction with the portal oligomer. Molecular Microbiology 6.
Journal Article
27 (8), pp. 673 - 684 (2003)
A single amphioxus and sea urchin runt-gene suggests that runt-gene duplications occurred in early chordate evolution. Developmental and Comparative Immunology 7.
Journal Article
120A (2), pp. 261 - 265 (2003)
Two brothers with findings resembling congenital intrauterine infection-like syndrome (pseudo-TORCH syndrome). American Journal of Medical Genetics 8.
Journal Article
122 (1), p. 9a - 9a (2003)
The ClC-7 chloride channel as a regulator of bone resorption in mice and man. Journal of General Physiology 9.
Journal Article
8 (7), pp. 645 - 654 (2003)
The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway. Genes to Cells 10.
Journal Article
53 (3), pp. 125 - 133 (2003)
Cloning and expression of gallerimycin, an antifungal peptide expressed in immune response of greater wax moth larvae, Galleria mellonella. Archives of Insect Biochemistry and Physiology 11.
Journal Article
107 (19), pp. 2467 - 2474 (2003)
Genome-wide array analysis of normal and malformed human hearts. Circulation 12.
Journal Article
278 (19), pp. 17360 - 17367 (2003)
Expression of galectin-3 in skeletal tissues is controlled by Runx2. Journal of Biological Chemistry 13.
Journal Article
278 (19), pp. 17360 - 17367 (2003)
Expression of galectin-3 in skeletal tissues is controlled by Runx2. Journal of Biological Chemistry 14.
Journal Article
120A (4), pp. 547 - 552 (2003)
Antenatal onset of cortical hyperostosis (Caffey disease): Case report and review. American Journal of Medical Genetics Part A 15.
Journal Article
22 (6), pp. 1255 - 1262 (2003)
Structure of a viral DNA gatekeeper at 10 angstrom resolution by cryo-electron microscopy. EMBO Journal 16.
Journal Article
27 (3), pp. 207 - 215 (2003)
Identification of immunorelevant genes from greater wax moth (Galleria mellonella) by a subtractive hybridization approach. Developmental and Comparative Immunology 17.
Journal Article
40 (2), pp. 115 - 121 (2003)
A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. Journal of Medical Genetics 18.
Journal Article
12 (1), pp. 61 - 69 (2003)
Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger-Huet anomaly. Human Molecular Genetics