Journal Article (30)
21.
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 22.
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, 23.
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 24.
Journal Article
17 (9), pp. 122 - 133 (2008)
Brachydactyly type A2 associated with a defect in proGDF5 processing. Human Molecular Genetics 25.
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 26.
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 27.
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 28.
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 29.
Journal Article
31, p. e83 - e83 (2008)
HNF1B Abnormality (Mature-Onset Diabetes of the Young 5) in Children and Adolescents: High prevalence in autoantibody-negative type 1 diabetes with kidney defects. Diabetes Care 30.
Journal Article
4 (1), pp. 81 - 95 (2008)
The generalised k-Truncated Suffix Tree for time- and space-efficient searches in multiple DNA or protein sequences. International Journal of Bioinformatics Research and Applications: Ijbra