Publications
Journal Article (30)
1.
Journal Article
75 (6), pp. 725 - 727 (2008)
Cleidocranial dysplasia in a mother and her two children. Joint Bone Spine 2.
Journal Article
3, p. 14 - 14 (2008)
Syntenator: Multiple gene order alignments with a gene-specific scoring function. Algorythms for Molecular Biology 3.
Journal Article
83 (5), pp. 610 - 615 (2008)
The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease. The American Journal of Human Genetics 4.
Journal Article
146A (21), pp. 2804 - 2809 (2008)
Robinow syndrome: Phenotypic variability in a family with a novel intragenic ROR2 mutation. American Journal of Medical Genetics Part A 5.
Journal Article
Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type. Neurology, pp. 1602 - 1608 (2008)
6.
Journal Article
20 (11), pp. 2134 - 2144 (2008)
Wnt-ligand-dependent interaction of TAK1 (TGF-beta-activated kinase-1) with the receptor tyrosine kinase Ror2 modulates canonical Wnt-signalling. Cellular Signalling 7.
Journal Article
167 (8), pp. 903 - 908 (2008)
A further case of the recurrent 15q24 microdeletion syndrome, detected by array CGH. European Journal of Pediatrics 8.
Journal Article
31 (6), p. 21 - 21 (2008)
Modelling neurofibromatosis type 1 tibial dysplasia and its treatment with lovastatin. BMC Medicine 9.
Journal Article
217 (2), pp. 511 - 517 (2008)
Expression of Runx2 transcription factor in non-skeletal tissues, sperm and brain. Journal of Cellular Physiology 10.
Journal Article
146A (16), pp. 2116 - 2121 (2008)
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia. American Journal of Medical Genetics Part A 11.
Journal Article
51 (6), pp. 615 - 621 (2008)
A cryptic unbalanced translocation t(2;9)(p25.2;q34.3) causes the phenotype of 9q subtelomeric deletion syndrome and additional exophthalmos and joint contractures. European Journal of Medical Genetics 12.
Journal Article
74 (6), pp. 560 - 565 (2008)
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. Clinical Genetics 13.
Journal Article
74 (6), pp. 560 - 565 (2008)
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. Clinical Genetics 14.
Journal Article
146A (14), pp. 1859 - 1864 (2008)
Czech dysplasia: report of a large family and further delineation of the phenotype. American Journal of Medical Genetics Part A 15.
Journal Article
146A (14), pp. 1859 - 1864 (2008)
Czech dysplasia: report of a large family and further delineation of the phenotype. American Journal of Medical Genetics Part A 16.
Journal Article
146A (8), pp. 965 - 976 (2008)
Geroderma osteodysplasticum and wrinkly skin syndrome in 22 patients from Oman. American Journal of Medical Genetics Part A 17.
Journal Article
105 (21), p. E26 - E26 (2008)
Genes and quadrupedal locomotion in humans. Proceedings of the National Academy of Sciences of the United States of America 18.
Journal Article
40 (4), pp. 638 - 650 (2008)
A short ultraconserved sequence drives transcription from an alternate FBN1 promoter. The International Journal of Biochemistry & Cell Biology 19.
Journal Article
16, pp. 1070 - 1074 (2008)
Cerebellar hypoplasia, with quadrupedal locomotion, caused by mutations in the very low-density lipoprotein receptor gene. European Journal of Human Genetics 20.
Journal Article
4 (3), p. e1000025 - e1000025 (2008)
Evolution of a core gene network for skeletogenesis in chordates. PLoS Genetics