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

D L Rimoin

Showing results (231-240 of 284) with videos related to

Pageof 29
Sort By:
Birth Defects Original Article Series|January 1, 1976
Heterogeneity in the campomelic syndromes: long and short bone varietiesA Khajavi, R S Lachman, D L Rimoin, 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.
American Journal of Medical Genetics|April 11, 1991
Deletion of 20p 11.23----pter with normal growth hormone-releasing hormone genesM Shohat, V Herman, S Melmed, et al.
Birth Defects Original Article Series|January 1, 1974
Histologic studies in the chondrodystrophiesD L Rimoin, D W Hollister, R S Lachman, et al.
American Journal of Human Genetics|February 1, 1995
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenitaG E Tiller, M A Weis, P A Polumbo, 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.
The Journal of Pediatrics|October 1, 1988
A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome)P L Robinson, M Shohat, R M Winter, et al.
The New England Journal of Medicine|January 11, 1979
Duodenal-ulcer disease associated with elevated serum pepsinogen I: an inherited autosomal dominant disorderJ I Rotter, J Q Sones, I M Samloff, et al.
American Journal of Medical Genetics|January 1, 1980
Congenital macular colobomas and short-limb skeletal dysplasiaR D Smith, R M Fineman, D O Sillence, et al.
Genomics|December 1, 1993
Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19M D Briggs, I M Rasmussen, J L Weber, et al.
Pageof 29

Showing results (231-240 of 284) with videos related to

Sort By:
Pageof 29
Birth Defects Original Article Series|January 1, 1976
Heterogeneity in the campomelic syndromes: long and short bone varietiesA Khajavi, R S Lachman, D L Rimoin, 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.
American Journal of Medical Genetics|April 11, 1991
Deletion of 20p 11.23----pter with normal growth hormone-releasing hormone genesM Shohat, V Herman, S Melmed, et al.
Birth Defects Original Article Series|January 1, 1974
Histologic studies in the chondrodystrophiesD L Rimoin, D W Hollister, R S Lachman, et al.
American Journal of Human Genetics|February 1, 1995
An RNA-splicing mutation (G+5IVS20) in the type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenitaG E Tiller, M A Weis, P A Polumbo, 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.
The Journal of Pediatrics|October 1, 1988
A unique association of short stature, dysmorphic features, and speech impairment (Floating-Harbor syndrome)P L Robinson, M Shohat, R M Winter, et al.
The New England Journal of Medicine|January 11, 1979
Duodenal-ulcer disease associated with elevated serum pepsinogen I: an inherited autosomal dominant disorderJ I Rotter, J Q Sones, I M Samloff, et al.
American Journal of Medical Genetics|January 1, 1980
Congenital macular colobomas and short-limb skeletal dysplasiaR D Smith, R M Fineman, D O Sillence, et al.
Genomics|December 1, 1993
Genetic linkage of mild pseudoachondroplasia (PSACH) to markers in the pericentromeric region of chromosome 19M D Briggs, I M Rasmussen, J L Weber, et al.
Pageof 29