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D L Rimoin

Showing results (191-200 of 284) with videos related to

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Human Molecular Genetics|November 1, 1994
A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasiaD J Wilkin, R Bogaert, R S Lachman, et al.
American Journal of Medical Genetics|November 25, 1992
Spondylometaphyseal dysplasia, Sedaghatian typeJ N Peeden, D L Rimoin, R S Lachman, et al.
Human Molecular Genetics|November 1, 1995
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type IP L Tavormina, D L Rimoin, D H Cohn, et al.
Pediatric Radiology|November 3, 1998
Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego typeH Kitoh, R S Lachman, S G Brodie, et al.
The Journal of Pediatrics|August 1, 1977
Dominant inheritance of cerebral gigantismJ Zonana, J F Sotos, C A Romshe, et al.
American Journal of Human Genetics|February 1, 1996
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasiasJ Hästbacka, A Superti-Furga, W R Wilcox, et al.
Annals of the New York Academy of Sciences|June 8, 1996
Sulfate transport in chondrodysplasiaJ Hästbacka, A Superti-Furga, W R Wilcox, et al.
American Journal of Medical Genetics|March 1, 1986
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneityD O Sillence, K K Barlow, W G Cole, et al.
American Journal of Medical Genetics|March 1, 1988
A new autosomal recessive lethal chondrodystrophy with congenital hydropsC R Greenberg, D L Rimoin, H E Gruber, et al.
American Journal of Medical Genetics|May 26, 1998
Pacman dysplasia: report of two affected sibsW R Wilcox, B C Lucas, B Loebel, et al.
Pageof 29

Showing results (191-200 of 284) with videos related to

Sort By:
Pageof 29
Human Molecular Genetics|November 1, 1994
A single amino acid substitution (G103D) in the type II collagen triple helix produces Kniest dysplasiaD J Wilkin, R Bogaert, R S Lachman, et al.
American Journal of Medical Genetics|November 25, 1992
Spondylometaphyseal dysplasia, Sedaghatian typeJ N Peeden, D L Rimoin, R S Lachman, et al.
Human Molecular Genetics|November 1, 1995
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type IP L Tavormina, D L Rimoin, D H Cohn, et al.
Pediatric Radiology|November 3, 1998
Extra pelvic ossification centers in thanatophoric dysplasia and platyspondylic lethal skeletal dysplasia-San Diego typeH Kitoh, R S Lachman, S G Brodie, et al.
The Journal of Pediatrics|August 1, 1977
Dominant inheritance of cerebral gigantismJ Zonana, J F Sotos, C A Romshe, et al.
American Journal of Human Genetics|February 1, 1996
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasiasJ Hästbacka, A Superti-Furga, W R Wilcox, et al.
Annals of the New York Academy of Sciences|June 8, 1996
Sulfate transport in chondrodysplasiaJ Hästbacka, A Superti-Furga, W R Wilcox, et al.
American Journal of Medical Genetics|March 1, 1986
Osteogenesis imperfecta type III. Delineation of the phenotype with reference to genetic heterogeneityD O Sillence, K K Barlow, W G Cole, et al.
American Journal of Medical Genetics|March 1, 1988
A new autosomal recessive lethal chondrodystrophy with congenital hydropsC R Greenberg, D L Rimoin, H E Gruber, et al.
American Journal of Medical Genetics|May 26, 1998
Pacman dysplasia: report of two affected sibsW R Wilcox, B C Lucas, B Loebel, et al.
Pageof 29