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

A P Read

Showing results (91-100 of 102) with videos related to

Pageof 11
Sort By:
Human Genetics|July 1, 1986
Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysisA P Read, R V Thakker, K E Davies, et al.
Nature Genetics|July 1, 1996
LIM-kinase deleted in Williams syndromeM Tassabehji, K Metcalfe, W D Fergusson, et al.
Lancet (London, England)|December 5, 1987
Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophyS M Forrest, T J Smith, G S Cross, et al.
American Journal of Human Genetics|February 1, 1995
Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37L C Wilson, K Leverton, M E Oude Luttikhuis, et al.
Journal of Medical Genetics|July 1, 1995
Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13qG Van Camp, M N Van Thienen, I Handig, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|May 13, 1999
Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophagesS J Smith, A K Rucka, J L Berry, et al.
Human Genetics|March 1, 1996
The gene for X-linked hypophosphataemic rickets maps to a 200-300kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE)P S Rowe, J N Goulding, F Francis, 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.
Nature Genetics|February 14, 1998
SOX10 mutations in patients with Waardenburg-Hirschsprung diseaseV Pingault, N Bondurand, K Kuhlbrodt, et al.
Human Genetics|July 8, 1998
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutationsA L DeStefano, L A Cupples, K S Arnos, et al.
Pageof 11

Showing results (91-100 of 102) with videos related to

Sort By:
Pageof 11
Human Genetics|July 1, 1986
Mapping of human X-linked hypophosphataemic rickets by multilocus linkage analysisA P Read, R V Thakker, K E Davies, et al.
Nature Genetics|July 1, 1996
LIM-kinase deleted in Williams syndromeM Tassabehji, K Metcalfe, W D Fergusson, et al.
Lancet (London, England)|December 5, 1987
Effective strategy for prenatal prediction of Duchenne and Becker muscular dystrophyS M Forrest, T J Smith, G S Cross, et al.
American Journal of Human Genetics|February 1, 1995
Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37L C Wilson, K Leverton, M E Oude Luttikhuis, et al.
Journal of Medical Genetics|July 1, 1995
Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13qG Van Camp, M N Van Thienen, I Handig, et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research|May 13, 1999
Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophagesS J Smith, A K Rucka, J L Berry, et al.
Human Genetics|March 1, 1996
The gene for X-linked hypophosphataemic rickets maps to a 200-300kb region in Xp22.1, and is located on a single YAC containing a putative vitamin D response element (VDRE)P S Rowe, J N Goulding, F Francis, 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.
Nature Genetics|February 14, 1998
SOX10 mutations in patients with Waardenburg-Hirschsprung diseaseV Pingault, N Bondurand, K Kuhlbrodt, et al.
Human Genetics|July 8, 1998
Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutationsA L DeStefano, L A Cupples, K S Arnos, et al.
Pageof 11