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D L Rimoin

Showing results (221-230 of 284) with videos related to

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Birth Defects Original Article Series|January 1, 1974
Beta-glucuronidase deficiency mucopolysaccharidosisW S Sly, F E Brot, J Glaser, et al.
Lancet (London, England)|June 14, 1975
Letter: Phenotypic variation in alpha-L-iduronidase deficiencyJ Leisti, D L Rimoin, M M Kaback, et al.
American Journal of Medical Genetics|July 1, 1985
Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocationA G Hunter, D L Rimoin, U M Koch, et al.
The Journal of Biological Chemistry|November 5, 1992
An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesisR Bogaert, G E Tiller, M A Weis, et al.
The Journal of Pediatrics|August 1, 1990
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and tracheaM Shohat, H E Gruber, R A Pagon, et al.
Metabolism: Clinical and Experimental|May 1, 1983
A search for heterogeneity in insulin dependent diabetes mellitus (IDDM): HLA and autoimmune studies in simplex, multiplex and multigenerational familiesC E Anderson, S E Hodge, R Rubin, et al.
American Journal of Medical Genetics|October 1, 1990
Rearrangement of chromosome 15 in the region q11.2----q12 in an individual with obesity syndrome and her normal motherM Shohat, T Shohat, D L Rimoin, et al.
Progress in Clinical and Biological Research|January 1, 1982
Workshop on genetics of diabetesJ I Rotter, P Platz, C E Anderson, et al.
Annals of the New York Academy of Sciences|June 8, 1996
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasiaD H Cohn, M D Briggs, L M King, et al.
Archives of Biochemistry and Biophysics|July 24, 1998
Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasiaR J Fernandes, D J Wilkin, M A Weis, et al.
Pageof 29

Showing results (221-230 of 284) with videos related to

Sort By:
Pageof 29
Birth Defects Original Article Series|January 1, 1974
Beta-glucuronidase deficiency mucopolysaccharidosisW S Sly, F E Brot, J Glaser, et al.
Lancet (London, England)|June 14, 1975
Letter: Phenotypic variation in alpha-L-iduronidase deficiencyJ Leisti, D L Rimoin, M M Kaback, et al.
American Journal of Medical Genetics|July 1, 1985
Chondrodysplasia punctata in an infant with duplication 16p due to a 7;16 translocationA G Hunter, D L Rimoin, U M Koch, et al.
The Journal of Biological Chemistry|November 5, 1992
An amino acid substitution (Gly853-->Glu) in the collagen alpha 1(II) chain produces hypochondrogenesisR Bogaert, G E Tiller, M A Weis, et al.
The Journal of Pediatrics|August 1, 1990
Geleophysic dysplasia: a storage disorder affecting the skin, bone, liver, heart, and tracheaM Shohat, H E Gruber, R A Pagon, et al.
Metabolism: Clinical and Experimental|May 1, 1983
A search for heterogeneity in insulin dependent diabetes mellitus (IDDM): HLA and autoimmune studies in simplex, multiplex and multigenerational familiesC E Anderson, S E Hodge, R Rubin, et al.
American Journal of Medical Genetics|October 1, 1990
Rearrangement of chromosome 15 in the region q11.2----q12 in an individual with obesity syndrome and her normal motherM Shohat, T Shohat, D L Rimoin, et al.
Progress in Clinical and Biological Research|January 1, 1982
Workshop on genetics of diabetesJ I Rotter, P Platz, C E Anderson, et al.
Annals of the New York Academy of Sciences|June 8, 1996
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasiaD H Cohn, M D Briggs, L M King, et al.
Archives of Biochemistry and Biophysics|July 24, 1998
Incorporation of structurally defective type II collagen into cartilage matrix in kniest chondrodysplasiaR J Fernandes, D J Wilkin, M A Weis, et al.
Pageof 29