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D H Cohn

Showing results (31-40 of 66) with videos related to

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The Journal of Biological Chemistry|February 5, 1991
The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helixR J Wenstrup, A W Shrago-Howe, L W Lever, et al.
Clinical Genetics|December 8, 2016
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan typeN Badiner, S P Taylor, K Forlenza, 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 Biological Chemistry|May 25, 1985
Nucleotide sequence of the luxA gene of Vibrio harveyi and the complete amino acid sequence of the alpha subunit of bacterial luciferaseD H Cohn, A J Mileham, M I Simon, et al.
Human Genetics|May 1, 1991
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagenC J Pruchno, D H Cohn, G A Wallis, et al.
Genomics|August 10, 1995
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12R G Knowlton, J A Cekleniak, D H Cohn, 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.
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.
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.
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.
Pageof 7

Showing results (31-40 of 66) with videos related to

Sort By:
Pageof 7
The Journal of Biological Chemistry|February 5, 1991
The effects of different cysteine for glycine substitutions within alpha 2(I) chains. Evidence of distinct structural domains within the type I collagen triple helixR J Wenstrup, A W Shrago-Howe, L W Lever, et al.
Clinical Genetics|December 8, 2016
Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short-rib polydactyly type I, Saldino-Noonan typeN Badiner, S P Taylor, K Forlenza, 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 Biological Chemistry|May 25, 1985
Nucleotide sequence of the luxA gene of Vibrio harveyi and the complete amino acid sequence of the alpha subunit of bacterial luciferaseD H Cohn, A J Mileham, M I Simon, et al.
Human Genetics|May 1, 1991
Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagenC J Pruchno, D H Cohn, G A Wallis, et al.
Genomics|August 10, 1995
High-resolution genetic and physical mapping of multiple epiphyseal dysplasia and pseudoachondroplasia mutations at chromosome 19p13.1-p12R G Knowlton, J A Cekleniak, D H Cohn, 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.
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.
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.
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.
Pageof 7