Publications of Stefan Mundlos
All genres
Journal Article (266)
181.
Journal Article
217 (2), pp. 511 - 517 (2008)
Expression of Runx2 transcription factor in non-skeletal tissues, sperm and brain. Journal of Cellular Physiology 182.
Journal Article
146A (16), pp. 2116 - 2121 (2008)
Compound heterozygosity for GDF5 in Du Pan type chondrodysplasia. American Journal of Medical Genetics Part A 183.
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 184.
Journal Article
74 (6), pp. 560 - 565 (2008)
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. Clinical Genetics 185.
Journal Article
74 (6), pp. 560 - 565 (2008)
Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. Clinical Genetics 186.
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 187.
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 188.
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 189.
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 190.
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 191.
Journal Article
4 (3), p. e1000025 - e1000025 (2008)
Evolution of a core gene network for skeletogenesis in chordates. PLoS Genetics 192.
Journal Article
135 (9), pp. 1713 - 1723 (2008)
The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome. Development 193.
Journal Article
82 (2), pp. 464 - 476 (2008)
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders. The American Journal of Human Genetics, 194.
Journal Article
237 (2), pp. 339 - 353 (2008)
Redundant function of the heparan sulfate 6-O-endosulfatases Sulf1 and Sulf2 during skeletal development. Developmental Dynamics 195.
Journal Article
17 (9), pp. 122 - 133 (2008)
Brachydactyly type A2 associated with a defect in proGDF5 processing. Human Molecular Genetics 196.
Journal Article
45 (6), pp. 370 - 375 (2008)
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 197.
Journal Article
45 (6), pp. 370 - 375 (2008)
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 198.
Journal Article
45 (6), pp. 370 - 375 (2008)
A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome. Journal of Medical Gentics 199.
Journal Article
40 (1), pp. 32 - 34 (2008)
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2. Nature Genetics 200.
Journal Article
143 (22), pp. 2668 - 2674 (2007)
Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome. American Journal of Medical Genetics / Part A