Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Filters

P Beighton

Showing results (281-290 of 292) with videos related to

Pageof 30
Sort By:
Human Genetics|January 1, 1985
Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome)K E Davies, M G Mattei, J F Mattei, et al.
American Journal of Medical Genetics|March 1, 1988
International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986P Beighton, A de Paepe, D Danks, et al.
American Journal of Human Genetics|May 20, 1999
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeatsM T Bassi, R S Ramesar, B Caciotti, et al.
American Journal of Human Genetics|October 1, 1992
SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasiaW A Sweetman, B Rash, B Sykes, et al.
American Journal of Human Genetics|May 11, 1992
Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortiumL A Farrer, K M Grundfast, J Amos, et al.
American Journal of Human Genetics|July 1, 1992
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)I Bach, H G Brunner, P Beighton, et al.
Nature Genetics|December 2, 2000
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)S Nicole, C S Davoine, H Topaloglu, et al.
Human Genetics|September 1, 1996
Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM intervalB Fontaine, S Nicole, H Topaloglu, et al.
American Journal of Human Genetics|February 17, 2001
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing proteinM E Brunkow, J C Gardner, J Van Ness, et al.
American Journal of Human Genetics|April 28, 2001
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANKE Reichenberger, V Tiziani, S Watanabe, et al.
Pageof 30

Showing results (281-290 of 292) with videos related to

Sort By:
Pageof 30
Human Genetics|January 1, 1985
Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome)K E Davies, M G Mattei, J F Mattei, et al.
American Journal of Medical Genetics|March 1, 1988
International Nosology of Heritable Disorders of Connective Tissue, Berlin, 1986P Beighton, A de Paepe, D Danks, et al.
American Journal of Human Genetics|May 20, 1999
X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeatsM T Bassi, R S Ramesar, B Caciotti, et al.
American Journal of Human Genetics|October 1, 1992
SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasiaW A Sweetman, B Rash, B Sykes, et al.
American Journal of Human Genetics|May 11, 1992
Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortiumL A Farrer, K M Grundfast, J Amos, et al.
American Journal of Human Genetics|July 1, 1992
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)I Bach, H G Brunner, P Beighton, et al.
Nature Genetics|December 2, 2000
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)S Nicole, C S Davoine, H Topaloglu, et al.
Human Genetics|September 1, 1996
Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM intervalB Fontaine, S Nicole, H Topaloglu, et al.
American Journal of Human Genetics|February 17, 2001
Bone dysplasia sclerosteosis results from loss of the SOST gene product, a novel cystine knot-containing proteinM E Brunkow, J C Gardner, J Van Ness, et al.
American Journal of Human Genetics|April 28, 2001
Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANKE Reichenberger, V Tiziani, S Watanabe, et al.
Pageof 30