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 (261-270 of 284) with videos related to

Pageof 29
Sort By:
American Journal of Medical Genetics|August 1, 1994
Desbuquois syndrome: clinical, radiographic, and morphologic characterizationM Shohat, R Lachman, H E Gruber, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|February 11, 2011
Abnormalities of the upper extremities on fetal magnetic resonance imagingS F Nemec, G Kasprian, P C Brugger, et al.
Diabetologia|October 1, 1983
Association studies between Type 1 (insulin-dependent) diabetes and 27 genetic markers: lack of association between Type 1 diabetes and Kidd blood groupS E Hodge, C E Anderson, K Neiswanger, et al.
American Journal of Medical Genetics|June 1, 1990
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type IIH J Stern, J M Graham, R S Lachman, et al.
American Journal of Medical Genetics|February 1, 1985
Computerized tomography of the foramen magnum: achondroplastic values compared to normal standardsJ T Hecht, F W Nelson, I J Butler, et al.
Human Genetics|February 1, 1995
Genetic homogeneity of cartilage-hair hypoplasiaT Sulisalo, I van der Burgt, D L Rimoin, et al.
Human Genetics|March 1, 1994
A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrixD L Rimoin, I M Rasmussen, M D Briggs, et al.
Annals of the New York Academy of Sciences|June 8, 1996
A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycansA Superti-Furga, J Hästbacka, A Rossi, et al.
Journal of Medical Genetics|April 4, 2000
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorderG R Mortier, M Weis, L Nuytinck, et al.
Nature Genetics|July 3, 1999
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndromeN Braverman, P Lin, F F Moebius, et al.
Pageof 29

Showing results (261-270 of 284) with videos related to

Sort By:
Pageof 29
American Journal of Medical Genetics|August 1, 1994
Desbuquois syndrome: clinical, radiographic, and morphologic characterizationM Shohat, R Lachman, H E Gruber, et al.
Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology|February 11, 2011
Abnormalities of the upper extremities on fetal magnetic resonance imagingS F Nemec, G Kasprian, P C Brugger, et al.
Diabetologia|October 1, 1983
Association studies between Type 1 (insulin-dependent) diabetes and 27 genetic markers: lack of association between Type 1 diabetes and Kidd blood groupS E Hodge, C E Anderson, K Neiswanger, et al.
American Journal of Medical Genetics|June 1, 1990
Atelosteogenesis type III: a distinct skeletal dysplasia with features overlapping atelosteogenesis and oto-palato-digital syndrome type IIH J Stern, J M Graham, R S Lachman, et al.
American Journal of Medical Genetics|February 1, 1985
Computerized tomography of the foramen magnum: achondroplastic values compared to normal standardsJ T Hecht, F W Nelson, I J Butler, et al.
Human Genetics|February 1, 1995
Genetic homogeneity of cartilage-hair hypoplasiaT Sulisalo, I van der Burgt, D L Rimoin, et al.
Human Genetics|March 1, 1994
A large family with features of pseudoachondroplasia and multiple epiphyseal dysplasia: exclusion of seven candidate gene loci that encode proteins of the cartilage extracellular matrixD L Rimoin, I M Rasmussen, M D Briggs, et al.
Annals of the New York Academy of Sciences|June 8, 1996
A family of chondrodysplasias caused by mutations in the diastrophic dysplasia sulfate transporter gene and associated with impaired sulfation of proteoglycansA Superti-Furga, J Hästbacka, A Rossi, et al.
Journal of Medical Genetics|April 4, 2000
Report of five novel and one recurrent COL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorderG R Mortier, M Weis, L Nuytinck, et al.
Nature Genetics|July 3, 1999
Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hünermann syndromeN Braverman, P Lin, F F Moebius, et al.
Pageof 29