Journal Article (451)
421.
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 422.
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 423.
Journal Article
73 (3), pp. 447 - 474 (2003)
Genetic disorders of the skeleton: a developmental approach. American Journal of Human Genetics 424.
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 425.
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 426.
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 427.
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 428.
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 429.
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 430.
Journal Article
107 (19), pp. 2467 - 2474 (2003)
Genome-wide array analysis of normal and malformed human hearts. Circulation 431.
Journal Article
278 (19), pp. 17360 - 17367 (2003)
Expression of galectin-3 in skeletal tissues is controlled by Runx2. Journal of Biological Chemistry 432.
Journal Article
278 (19), pp. 17360 - 17367 (2003)
Expression of galectin-3 in skeletal tissues is controlled by Runx2. Journal of Biological Chemistry 433.
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 434.
Journal Article
22 (6), pp. 1255 - 1262 (2003)
Structure of a viral DNA gatekeeper at 10 angstrom resolution by cryo-electron microscopy. EMBO Journal 435.
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 436.
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 437.
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 438.
Journal Article
161 (11), pp. 619 - 622 (2002)
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. European Journal of Pediatrics 439.
Journal Article
161 (11), pp. 623 - 626 (2002)
Severe cleidocranial dysplasia can mimic hypophosphatasia. European Journal of Pediatrics 440.
Journal Article
51 (3), pp. 249 - 255 (2002)
Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy. Epilepsy Research