F M Pope|A C Nicholls - JoVE Visualize

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Proceedings of the National Academy of Sciences of the United States of America|July 1, 1984

Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfectaL A Dickson, T Pihlajaniemi, S Deak, et al.

Clinical and Experimental Dermatology|September 25, 2016

Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarsenessS M C George, A Vandersteen, E Nigar, et al.

Lancet (London, England)|January 16, 1982

Basophils in allergen-induced patch test sites in atopic dermatitisE B Mitchell, J Crow, M D Chapman, et al.

Proceedings of the National Academy of Sciences of the United States of America|April 1, 1975

Patients with Ehlers-Danlos syndrome type IV lack type III collagenF M Pope, G R Martin, J R Lichtenstein, et al.

The Journal of Biological Chemistry|November 10, 1984

Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutationT Pihlajaniemi, L A Dickson, F M Pope, et al.

QJM : Monthly Journal of the Association of Physicians|August 20, 2003

A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasiaC Tysoe, J Saunders, L White, et al.

The Journal of Investigative Dermatology|August 1, 1996

Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosaM G Dunnill, J A McGrath, A J Richards, et al.

Clinical Genetics|December 1, 1993

Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expressionJ C Dean, E S Gray, K N Stewart, et al.

Proceedings of the National Academy of Sciences of the United States of America|July 1, 1992

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptidesK Kainulainen, L Y Sakai, A Child, et al.

Human Molecular Genetics|September 1, 1996

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagenA J Richards, J R Yates, R Williams, et al.

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Showing results (91-100 of 119) with videos related to

Sort By:

Pageof 12

Proceedings of the National Academy of Sciences of the United States of America|July 1, 1984

Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfectaL A Dickson, T Pihlajaniemi, S Deak, et al.

Clinical and Experimental Dermatology|September 25, 2016

Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarsenessS M C George, A Vandersteen, E Nigar, et al.

Lancet (London, England)|January 16, 1982

Basophils in allergen-induced patch test sites in atopic dermatitisE B Mitchell, J Crow, M D Chapman, et al.

Proceedings of the National Academy of Sciences of the United States of America|April 1, 1975

Patients with Ehlers-Danlos syndrome type IV lack type III collagenF M Pope, G R Martin, J R Lichtenstein, et al.

The Journal of Biological Chemistry|November 10, 1984

Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutationT Pihlajaniemi, L A Dickson, F M Pope, et al.

QJM : Monthly Journal of the Association of Physicians|August 20, 2003

A glycine to aspartic acid substitution of COL2A1 in a family with the Strudwick variant of spondyloepimetaphyseal dysplasiaC Tysoe, J Saunders, L White, et al.

The Journal of Investigative Dermatology|August 1, 1996

Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosaM G Dunnill, J A McGrath, A J Richards, et al.

Clinical Genetics|December 1, 1993

Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expressionJ C Dean, E S Gray, K N Stewart, et al.

Proceedings of the National Academy of Sciences of the United States of America|July 1, 1992

Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptidesK Kainulainen, L Y Sakai, A Child, et al.

Human Molecular Genetics|September 1, 1996

A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagenA J Richards, J R Yates, R Williams, et al.

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