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Showing results (71-80 of 76) with videos related to

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The European Respiratory Journal|August 1, 1996
Serum type I and type III procollagen peptide levels in sarcoidosisL Bacchella, C Tinelli, L S Gilè, et al.
Human Mutation|January 1, 1993
Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfectaM Mottes, M M Gomez Lira, M Valli, et al.
The Journal of Biological Chemistry|January 25, 1991
A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domainM Valli, M Mottes, R Tenni, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfectaR Tenni, P Biglino, K Dyne, et al.
Human Genetics|June 1, 1994
A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfectaM Mottes, A Sangalli, M Valli, et al.
Journal of Medical Genetics|December 5, 2006
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same familyA Lupi, A Rossi, E Campari, et al.
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Showing results (71-80 of 76) with videos related to

Sort By:
Pageof 8
You have reached the last page of results.This site can display upto 76 results.
The European Respiratory Journal|August 1, 1996
Serum type I and type III procollagen peptide levels in sarcoidosisL Bacchella, C Tinelli, L S Gilè, et al.
Human Mutation|January 1, 1993
Paternal mosaicism for a COL1A1 dominant mutation (alpha 1 Ser-415) causes recurrent osteogenesis imperfectaM Mottes, M M Gomez Lira, M Valli, et al.
The Journal of Biological Chemistry|January 25, 1991
A de novo G to T transversion in a pro-alpha 1 (I) collagen gene for a moderate case of osteogenesis imperfecta. Substitution of cysteine for glycine 178 in the triple helical domainM Valli, M Mottes, R Tenni, et al.
Journal of Inherited Metabolic Disease|January 1, 1991
Phenotypic variability and abnormal type I collagen unstable at body temperature in a family with mild dominant osteogenesis imperfectaR Tenni, P Biglino, K Dyne, et al.
Human Genetics|June 1, 1994
A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfectaM Mottes, A Sangalli, M Valli, et al.
Journal of Medical Genetics|December 5, 2006
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same familyA Lupi, A Rossi, E Campari, et al.
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