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A C Nicholls

Showing results (41-50 of 58) with videos related to

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Clinical and Experimental Dermatology|July 1, 1997
Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypesN P Burrows, A C Nicholls, J R Yates, et al.
Journal of Clinical Pathology|June 1, 1980
Osteogenesis imperfecta (lethal) bones contain types III and V collagensF M Pope, A C Nicholls, C Eggleton, et al.
Current Problems in Dermatology|January 1, 1987
Clinical and genetic heterogeneity of the Marfan syndromeF M Pope, A C Nicholls, R M Lewkonia, et al.
Human Genetics|June 1, 1992
A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutationA J Richards, P N Ward, P Narcisi, et al.
Journal of Medical Genetics|October 23, 1998
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type IIA J Richards, S Martin, A C Nicholls, et al.
Journal of Medical Genetics|November 10, 2000
Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VIIA C Nicholls, J L Sher, M J Wright, et al.
Journal of Medical Genetics|November 1, 1996
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndromeA C Nicholls, J E Oliver, S McCarron, et al.
The British Journal of Dermatology|January 1, 1992
Clinical features of an affected father and daughter with Ehlers-Danlos syndrome type VIIBF M Pope, A C Nicholls, A Palan, et al.
British Dental Journal|October 7, 1989
A Polish variant of isolated dentinogenesis imperfecta with a generalised connective tissue defectA Komorowska, D Rozynkowa, K W Lee, et al.
Human Genetics|March 1, 1988
Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigreeA C Nicholls, A De Paepe, P Narcisi, et al.
Pageof 6

Showing results (41-50 of 58) with videos related to

Sort By:
Pageof 6
Clinical and Experimental Dermatology|July 1, 1997
Genetic linkage to the collagen alpha 1 (V) gene (COL5A1) in two British Ehlers-Danlos syndrome families with variable type I and II phenotypesN P Burrows, A C Nicholls, J R Yates, et al.
Journal of Clinical Pathology|June 1, 1980
Osteogenesis imperfecta (lethal) bones contain types III and V collagensF M Pope, A C Nicholls, C Eggleton, et al.
Current Problems in Dermatology|January 1, 1987
Clinical and genetic heterogeneity of the Marfan syndromeF M Pope, A C Nicholls, R M Lewkonia, et al.
Human Genetics|June 1, 1992
A single base mutation in the gene for type III collagen (COL3A1) converts glycine 847 to glutamic acid in a family with Ehlers-Danlos syndrome type IV. An unaffected family member is mosaic for the mutationA J Richards, P N Ward, P Narcisi, et al.
Journal of Medical Genetics|October 23, 1998
A single base mutation in COL5A2 causes Ehlers-Danlos syndrome type IIA J Richards, S Martin, A C Nicholls, et al.
Journal of Medical Genetics|November 10, 2000
Clinical phenotypes and molecular characterisation of three patients with Ehlers-Danlos syndrome type VIIA C Nicholls, J L Sher, M J Wright, et al.
Journal of Medical Genetics|November 1, 1996
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndromeA C Nicholls, J E Oliver, S McCarron, et al.
The British Journal of Dermatology|January 1, 1992
Clinical features of an affected father and daughter with Ehlers-Danlos syndrome type VIIBF M Pope, A C Nicholls, A Palan, et al.
British Dental Journal|October 7, 1989
A Polish variant of isolated dentinogenesis imperfecta with a generalised connective tissue defectA Komorowska, D Rozynkowa, K W Lee, et al.
Human Genetics|March 1, 1988
Linkage of a polymorphic marker for the type III collagen gene (COL3A1) to atypical autosomal dominant Ehlers-Danlos syndrome type IV in a large Belgian pedigreeA C Nicholls, A De Paepe, P Narcisi, et al.
Pageof 6