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W R Wilcox

Showing results (31-40 of 51) with videos related to

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American Journal of Medical Genetics|May 5, 2001
"Baby rattle" pelvis dysplasiaV Cormier-Daire, R Savarirayan, R S Lachman, et al.
Journal of Medical Genetics|November 14, 1997
Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasiaA Castriota-Scanderbeg, R Mingarelli, G Caramia, et al.
American Journal of Medical Genetics|December 8, 1998
Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type IIS G Brodie, R S Lachman, B F Crandall, et al.
Archives of Biochemistry and Biophysics|July 24, 1998
Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasiaR J Fernandes, D J Wilkin, M A Weis, et al.
Human Molecular Genetics|February 1, 1995
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimerG R Mortier, D J Wilkin, W R Wilcox, et al.
American Journal of Medical Genetics|December 5, 2000
Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphologyR Savarirayan, V Cormier-Daire, S Unger, et al.
American Journal of Medical Genetics|July 24, 1998
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasiaW R Wilcox, P L Tavormina, D Krakow, et al.
The New England Journal of Medicine|July 7, 2001
Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's diseaseC M Eng, N Guffon, W R Wilcox, et al.
The Journal of Biological Chemistry|March 21, 1998
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutationM A Weis, D J Wilkin, H J Kim, et al.
American Journal of Human Genetics|April 28, 2001
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tardaG E Tiller, V L Hannig, D Dozier, et al.
Pageof 6

Showing results (31-40 of 51) with videos related to

Sort By:
Pageof 6
American Journal of Medical Genetics|May 5, 2001
"Baby rattle" pelvis dysplasiaV Cormier-Daire, R Savarirayan, R S Lachman, et al.
Journal of Medical Genetics|November 14, 1997
Spondylo-mesomelic-acrodysplasia with joint dislocations and severe combined immunodeficiency: a newly recognised immuno-osseous dysplasiaA Castriota-Scanderbeg, R Mingarelli, G Caramia, et al.
American Journal of Medical Genetics|December 8, 1998
Radiographic and morphologic findings in a previously undescribed type of mesomelic dysplasia resembling atelosteogenesis type IIS G Brodie, R S Lachman, B F Crandall, et al.
Archives of Biochemistry and Biophysics|July 24, 1998
Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasiaR J Fernandes, D J Wilkin, M A Weis, et al.
Human Molecular Genetics|February 1, 1995
A radiographic, morphologic, biochemical and molecular analysis of a case of achondrogenesis type II resulting from substitution for a glycine residue (Gly691-->Arg) in the type II collagen trimerG R Mortier, D J Wilkin, W R Wilcox, et al.
American Journal of Medical Genetics|December 5, 2000
Oto-palato-digital syndrome, type II: report of three cases with further delineation of the chondro-osseous morphologyR Savarirayan, V Cormier-Daire, S Unger, et al.
American Journal of Medical Genetics|July 24, 1998
Molecular, radiologic, and histopathologic correlations in thanatophoric dysplasiaW R Wilcox, P L Tavormina, D Krakow, et al.
The New England Journal of Medicine|July 7, 2001
Safety and efficacy of recombinant human alpha-galactosidase A replacement therapy in Fabry's diseaseC M Eng, N Guffon, W R Wilcox, et al.
The Journal of Biological Chemistry|March 21, 1998
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutationM A Weis, D J Wilkin, H J Kim, et al.
American Journal of Human Genetics|April 28, 2001
A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tardaG E Tiller, V L Hannig, D Dozier, et al.
Pageof 6