Publications
Journal Article (14)
1.
Journal Article
161 (11), pp. 619 - 622 (2002)
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. European Journal of Pediatrics 2.
Journal Article
161 (11), pp. 623 - 626 (2002)
Severe cleidocranial dysplasia can mimic hypophosphatasia. European Journal of Pediatrics 3.
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 4.
Journal Article
20 (3), pp. 197 - 208 (2002)
TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies. Human Mutation 5.
Journal Article
20 (3), pp. 153 - 161 (2002)
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Human Mutation 6.
Journal Article
8 (5), pp. 612 - 625 (2002)
Crosslinking of 4.5S RNA to the Escherichia coli ribosome in the presence or absence of the protein Ffh. RNA 7.
Journal Article
245 (1), pp. 95 - 108 (2002)
Role of Runx Genes in Chondrocyte Differentiation. Developmental Biology 8.
Journal Article
245 (1), pp. 95 - 108 (2002)
Role of Runx Genes in Chondrocyte Differentiation. Developmental Biology 9.
Journal Article
245 (1), pp. 95 - 108 (2002)
Role of Runx Genes in Chondrocyte Differentiation. Developmental Biology 10.
Journal Article
22 (5), pp. 404 - 407 (2002)
Prenatal diagnosis of partial agenesis of the corpus callosum in a fetus with thanatophoric dysplasia type 2. Prenatal Diagnosis 11.
Journal Article
204 (4), pp. 296 - 297 (2002)
Segmental Neurofibromatosis. Dermatology 12.
Journal Article
19 (3), pp. 209 - 216 (2002)
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia. Human Mutation 13.
Journal Article
112 (1-2), pp. 53 - 67 (2002)
The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage eleme. Mechanisms of Development 14.
Journal Article
112 (1-2), pp. 53 - 67 (2002)
The synpolydactyly homolog (spdh) mutation in the mouse – a defect in patterning and growth of limb cartilage eleme. Mechanisms of Development