Publikationen von Stefan Mundlos
Alle Typen
Zeitschriftenartikel (249)
221.
Zeitschriftenartikel
101 (27), S. 10155 - 10160 (2004)
Loss of chondroitin 6-O-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement. Proceedings of the National Academy of Sciences 222.
Zeitschriftenartikel
75 (1), S. 27 - 34 (2004)
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. American Journal of Human Genetics 223.
Zeitschriftenartikel
126A (4), S. 413 - 419 (2004)
Spondyloepiphyseal dysplasia omani type: A new recessive type of SED with progressive spinal involvement. American Journal of Medical Genetics 224.
Zeitschriftenartikel
36 (2-3), S. 85 - 97 (2004)
Genetics of congenital hand anomalies. Handchirurgie, Mikrochirurgie, Plastische Chirurgie 225.
Zeitschriftenartikel
125A (3), S. 261 - 266 (2004)
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A 226.
Zeitschriftenartikel
125A (3), S. 261 - 266 (2004)
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A 227.
Zeitschriftenartikel
125A (3), S. 261 - 266 (2004)
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A 228.
Zeitschriftenartikel
41 (3), S. 213 - 218 (2004)
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. Journal of Medical Genetics 229.
Zeitschriftenartikel
41 (3), S. 213 - 218 (2004)
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. Journal of Medical Genetics 230.
Zeitschriftenartikel
229 (2), S. 400 - 410 (2004)
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. Developmental Dynamics 231.
Zeitschriftenartikel
124A (4), S. 356 - 363 (2004)
Brachydactyly type C caused by a homozygous missense mutation in the prodomain of CDMP1. American Journal of Medical Genetics 232.
Zeitschriftenartikel
11 (11), S. 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 233.
Zeitschriftenartikel
100 (21), S. 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 234.
Zeitschriftenartikel
73 (3), S. 447 - 474 (2003)
Genetic disorders of the skeleton: a developmental approach. American Journal of Human Genetics 235.
Zeitschriftenartikel
27 (8), S. 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 236.
Zeitschriftenartikel
8 (7), S. 645 - 654 (2003)
The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway. Genes to Cells 237.
Zeitschriftenartikel
278 (19), S. 17360 - 17367 (2003)
Expression of galectin-3 in skeletal tissues is controlled by Runx2. Journal of Biological Chemistry 238.
Zeitschriftenartikel
278 (19), S. 17360 - 17367 (2003)
Expression of galectin-3 in skeletal tissues is controlled by Runx2. Journal of Biological Chemistry 239.
Zeitschriftenartikel
120A (4), S. 547 - 552 (2003)
Antenatal onset of cortical hyperostosis (Caffey disease): Case report and review. American Journal of Medical Genetics Part A 240.
Zeitschriftenartikel
161 (11), S. 619 - 622 (2002)
Cleidocranial dysplasia with decreased bone density and biochemical findings of hypophosphatasia. European Journal of Pediatrics