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D H Cohn

Showing results (11-20 of 66) with videos related to

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The Journal of Biological Chemistry|June 5, 1988
Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotypeR J Wenstrup, D H Cohn, T Cohen, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 1, 1986
Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen alleleD H Cohn, P H Byers, B Steinmann, et al.
American Journal of Human Genetics|March 1, 1990
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1)D H Cohn, B J Starman, B Blumberg, et al.
Human Mutation|January 1, 1992
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the diseaseM J Edwards, R J Wenstrup, P H Byers, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 1, 1990
Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasiaG E Tiller, D L Rimoin, L W Murray, et al.
The Journal of Biological Chemistry|June 5, 1988
A novel mutation causes a perinatal lethal form of osteogenesis imperfecta. An insertion in one alpha 1(I) collagen allele (COL1A1)P H Byers, B J Starman, D H Cohn, et al.
American Journal of Medical Genetics|May 8, 2000
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesisJ Körkkö, D H Cohn, L Ala-Kokko, et al.
European Journal of Human Genetics : EJHG|August 22, 2000
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromesD Krakow, D Salazar, W R Wilcox, et al.
Human Molecular Genetics|January 15, 1999
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) geneE Délot, L M King, M D Briggs, et al.
The Journal of Biological Chemistry|October 3, 1998
Physiological and pathological secretion of cartilage oligomeric matrix protein by cells in cultureE Délot, S G Brodie, L M King, et al.
Pageof 7

Showing results (11-20 of 66) with videos related to

Sort By:
Pageof 7
The Journal of Biological Chemistry|June 5, 1988
Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotypeR J Wenstrup, D H Cohn, T Cohen, et al.
Proceedings of the National Academy of Sciences of the United States of America|August 1, 1986
Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen alleleD H Cohn, P H Byers, B Steinmann, et al.
American Journal of Human Genetics|March 1, 1990
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1)D H Cohn, B J Starman, B Blumberg, et al.
Human Mutation|January 1, 1992
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a mutation in the COL1A2 gene of type I collagen. The mosaic parent exhibits phenotypic features of a mild form of the diseaseM J Edwards, R J Wenstrup, P H Byers, et al.
Proceedings of the National Academy of Sciences of the United States of America|May 1, 1990
Tandem duplication within a type II collagen gene (COL2A1) exon in an individual with spondyloepiphyseal dysplasiaG E Tiller, D L Rimoin, L W Murray, et al.
The Journal of Biological Chemistry|June 5, 1988
A novel mutation causes a perinatal lethal form of osteogenesis imperfecta. An insertion in one alpha 1(I) collagen allele (COL1A1)P H Byers, B J Starman, D H Cohn, et al.
American Journal of Medical Genetics|May 8, 2000
Widely distributed mutations in the COL2A1 gene produce achondrogenesis type II/hypochondrogenesisJ Körkkö, D H Cohn, L Ala-Kokko, et al.
European Journal of Human Genetics : EJHG|August 22, 2000
Exclusion of the Ellis-van Creveld region on chromosome 4p16 in some families with asphyxiating thoracic dystrophy and short-rib polydactyly syndromesD Krakow, D Salazar, W R Wilcox, et al.
Human Molecular Genetics|January 15, 1999
Trinucleotide expansion mutations in the cartilage oligomeric matrix protein (COMP) geneE Délot, L M King, M D Briggs, et al.
The Journal of Biological Chemistry|October 3, 1998
Physiological and pathological secretion of cartilage oligomeric matrix protein by cells in cultureE Délot, S G Brodie, L M King, et al.
Pageof 7