Journal Article (420)
381.
Journal Article
125A (3), pp. 261 - 266 (2004)
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A 382.
Journal Article
125A (3), pp. 261 - 266 (2004)
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A 383.
Journal Article
125A (3), pp. 261 - 266 (2004)
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A 384.
Journal Article
41 (3), pp. 213 - 218 (2004)
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. Journal of Medical Genetics 385.
Journal Article
41 (3), pp. 213 - 218 (2004)
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. Journal of Medical Genetics 386.
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 387.
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 388.
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 389.
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 390.
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 391.
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 392.
Journal Article
73 (3), pp. 447 - 474 (2003)
Genetic disorders of the skeleton: a developmental approach. American Journal of Human Genetics 393.
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 394.
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 395.
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 396.
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 397.
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 398.
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 399.
Journal Article
107 (19), pp. 2467 - 2474 (2003)
Genome-wide array analysis of normal and malformed human hearts. Circulation 400.
Journal Article
278 (19), pp. 17360 - 17367 (2003)
Expression of galectin-3 in skeletal tissues is controlled by Runx2. Journal of Biological Chemistry