Publikationen von Stefan Mundlos
Alle Typen
Zeitschriftenartikel (275)
Zeitschriftenartikel
580 (2), S. 455 - 462 (2006)
Mammalian mitochondrial nitric oxide synthase: Characterization of a novel candidate. FEBS Letters
Zeitschriftenartikel
115 (9), S. 2373 - 2381 (2005)
Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2. Journal of Clinical Investigation
Zeitschriftenartikel
9 (12), S. 1227 - 1238 (2004)
Modulation of GDF5/BRI-b signalling through interaction with the tyrosine kinase receptor Ror2. Genes to Cells
Zeitschriftenartikel
13 (22), S. 2841 - 2851 (2004)
Polyalanine expansion in HOXA13: three new affected families and the molecular consequences in a mouse model. Human Molecular Genetics
Zeitschriftenartikel
13 (20), S. 2351 - 2359 (2004)
A molecular pathogenesis for transcription factor associated poly-alanine tract expansions. Human Molecular Genetics
Zeitschriftenartikel
13 (17), S. 1969 - 1978 (2004)
Gene-Ontology analysis reveals association of tissue-specific 5' CpG-island genes with development and embryogenesis. Human Molecular Genetics
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
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
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
Zeitschriftenartikel
36 (2-3), S. 85 - 97 (2004)
Genetics of congenital hand anomalies. Handchirurgie, Mikrochirurgie, Plastische Chirurgie
Zeitschriftenartikel
125A (3), S. 261 - 266 (2004)
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A
Zeitschriftenartikel
125A (3), S. 261 - 266 (2004)
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A
Zeitschriftenartikel
125A (3), S. 261 - 266 (2004)
Dyschromatosis universalis hereditaria: Familial case and ultrastructural skin investigation. American Journal of Medical Genetics Part A
Zeitschriftenartikel
41 (3), S. 213 - 218 (2004)
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. Journal of Medical Genetics
Zeitschriftenartikel
41 (3), S. 213 - 218 (2004)
Acropectorovertebral dysgenesis (F syndrome) maps to chromosome 2q36. Journal of Medical Genetics
Zeitschriftenartikel
229 (2), S. 400 - 410 (2004)
Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome. Developmental Dynamics
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
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
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
Zeitschriftenartikel
73 (3), S. 447 - 474 (2003)
Genetic disorders of the skeleton: a developmental approach. American Journal of Human Genetics