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

W Reardon

Showing results (141-150 of 166) with videos related to

Pageof 17
Sort By:
Journal of Medical Genetics|June 30, 2000
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndromeP J Coucke, P Van Hauwe, L A Everett, et al.
Human Molecular Genetics|June 9, 1998
Molecular analysis of the PDS gene in Pendred syndromeB Coyle, W Reardon, J A Herbrick, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 8, 1997
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tractF R Goodman, S Mundlos, Y Muragaki, et al.
American Journal of Human Genetics|July 27, 1999
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase geneA Colige, A L Sieron, S W Li, et al.
Journal of Medical Genetics|February 1, 1997
Pendred syndrome: evidence for genetic homogeneity and further refinement of linkageE Gausden, B Coyle, J A Armour, et al.
Clinical Radiology|May 19, 1998
Radiological malformations of the ear in Pendred syndromeP D Phelps, R A Coffey, R C Trembath, et al.
Journal of Medical Genetics|January 14, 2000
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?W Reardon, A Smith, J W Honour, et al.
Nature Genetics|September 1, 1997
Mutations in CDMP1 cause autosomal dominant brachydactyly type CA Polinkovsky, N H Robin, J T Thomas, et al.
European Journal of Human Genetics : EJHG|February 15, 2001
Elastin: mutational spectrum in supravalvular aortic stenosisK Metcalfe, A K Rucka, L Smoot, et al.
Human Mutation|March 17, 2010
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletionsB D'haene, J Nevado, M Pugeat, et al.
Pageof 17

Showing results (141-150 of 166) with videos related to

Sort By:
Pageof 17
Journal of Medical Genetics|June 30, 2000
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndromeP J Coucke, P Van Hauwe, L A Everett, et al.
Human Molecular Genetics|June 9, 1998
Molecular analysis of the PDS gene in Pendred syndromeB Coyle, W Reardon, J A Herbrick, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 8, 1997
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tractF R Goodman, S Mundlos, Y Muragaki, et al.
American Journal of Human Genetics|July 27, 1999
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase geneA Colige, A L Sieron, S W Li, et al.
Journal of Medical Genetics|February 1, 1997
Pendred syndrome: evidence for genetic homogeneity and further refinement of linkageE Gausden, B Coyle, J A Armour, et al.
Clinical Radiology|May 19, 1998
Radiological malformations of the ear in Pendred syndromeP D Phelps, R A Coffey, R C Trembath, et al.
Journal of Medical Genetics|January 14, 2000
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome?W Reardon, A Smith, J W Honour, et al.
Nature Genetics|September 1, 1997
Mutations in CDMP1 cause autosomal dominant brachydactyly type CA Polinkovsky, N H Robin, J T Thomas, et al.
European Journal of Human Genetics : EJHG|February 15, 2001
Elastin: mutational spectrum in supravalvular aortic stenosisK Metcalfe, A K Rucka, L Smoot, et al.
Human Mutation|March 17, 2010
FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletionsB D'haene, J Nevado, M Pugeat, et al.
Pageof 17