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Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|April 6, 2000
Cytoskeletal abnormalities in chondrocytes with EXT1 and EXT2 mutationsM A Bernard, D A Hogue, W G Cole, et al.
Cell Motility and the Cytoskeleton|February 13, 2001
Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytesM A Bernard, C E Hall, D A Hogue, et al.
Neurology|December 1, 1993
Rapid-onset dystonia-parkinsonismW B Dobyns, L J Ozelius, P L Kramer, et al.
The Journal of Biological Chemistry|January 10, 1998
The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasiaB K Maddox, D R Keene, L Y Sakai, et al.
American Journal of Human Genetics|May 1, 1993
Molecular analysis of the 18q- syndrome--and correlation with phenotypeA D Kline, M E White, R Wapner, et al.
American Journal of Medical Genetics|September 1, 1994
Aarskog-Scott syndrome: confirmation of linkage to the pericentromeric region of the X chromosomeR E Stevenson, M May, J F Arena, et al.
American Journal of Medical Genetics|February 15, 1993
Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic featuresL O Langer, B J Wolfson, C I Scott, et al.
Human Genetics|February 1, 1995
Genetic homogeneity of cartilage-hair hypoplasiaT Sulisalo, I van der Burgt, D L Rimoin, et al.
The Journal of Pediatrics|March 1, 1984
Apnea and sudden unexpected death in infants with achondroplasiaR M Pauli, C I Scott, E R Wassman, et al.
Clinical Genetics|September 9, 2015
IRF6 mutation screening in non-syndromic orofacial clefting: analysis of 1521 familiesE J Leslie, D C Koboldt, C J Kang, et al.
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