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D H Cohn

Showing results (21-30 of 66) with videos related to

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American Journal of Human Genetics|August 10, 2000
A locus for an autosomal dominant form of progressive renal failure and hypertension at chromosome 1q21D H Cohn, T Shohat, M Yahav, et al.
American Journal of Medical Genetics|December 18, 2001
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenitaS Unger, J Korkko, D Krakow, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|June 8, 2000
Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasiaE C Spayde, A P Joshi, W R Wilcox, 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.
American Journal of Human Genetics|December 1, 1994
Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasiaR Bogaert, D Wilkin, W R Wilcox, et al.
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|February 11, 1997
Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African familyR Ballo, M D Briggs, D H Cohn, et al.
The Journal of Biological Chemistry|June 15, 1988
Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfectaM C Willing, D H Cohn, B Starman, et al.
American Journal of Medical Genetics|September 13, 2000
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codonsD J Wilkin, R Liberfarb, J Davis, et al.
The Journal of Biological Chemistry|June 16, 2001
Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxisR J Fernandes, S Hirohata, J M Engle, et al.
Pageof 7

Showing results (21-30 of 66) with videos related to

Sort By:
Pageof 7
American Journal of Human Genetics|August 10, 2000
A locus for an autosomal dominant form of progressive renal failure and hypertension at chromosome 1q21D H Cohn, T Shohat, M Yahav, et al.
American Journal of Medical Genetics|December 18, 2001
Double heterozygosity for pseudoachondroplasia and spondyloepiphyseal dysplasia congenitaS Unger, J Korkko, D Krakow, et al.
Matrix Biology : Journal of the International Society for Matrix Biology|June 8, 2000
Exon skipping mutation in the COL9A2 gene in a family with multiple epiphyseal dysplasiaE C Spayde, A P Joshi, W R Wilcox, 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.
American Journal of Human Genetics|December 1, 1994
Expression, in cartilage, of a 7-amino-acid deletion in type II collagen from two unrelated individuals with Kniest dysplasiaR Bogaert, D Wilkin, W R Wilcox, et al.
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|February 11, 1997
Multiple epiphyseal dysplasia, ribbing type: a novel point mutation in the COMP gene in a South African familyR Ballo, M D Briggs, D H Cohn, et al.
The Journal of Biological Chemistry|June 15, 1988
Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfectaM C Willing, D H Cohn, B Starman, et al.
American Journal of Medical Genetics|September 13, 2000
Rapid determination of COL2A1 mutations in individuals with Stickler syndrome: analysis of potential premature termination codonsD J Wilkin, R Liberfarb, J Davis, et al.
The Journal of Biological Chemistry|June 16, 2001
Procollagen II amino propeptide processing by ADAMTS-3. Insights on dermatosparaxisR J Fernandes, S Hirohata, J M Engle, et al.
Pageof 7