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Journal of Medical Genetics
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November 1, 1996
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome
A 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 VIIB
F M Pope, A C Nicholls, A Palan, et al.
Annals of the New York Academy of Sciences
|
June 8, 1996
Stickler syndrome type 2 and linkage to the COL11A1 gene
M P Snead, J R Yates, R Williams, et al.
Archives of Dermatology
|
January 1, 1979
Cutaneous histologic features in Ehlers-Danlos syndrome: study of 21 patients
V I Sulica, P H Cooper, F M Pope, et al.
British Dental Journal
|
October 7, 1989
A Polish variant of isolated dentinogenesis imperfecta with a generalised connective tissue defect
A Komorowska, D Rozynkowa, K W Lee, et al.
Genomics
|
July 1, 1994
Localization of the gene (LAMA4) to chromosome 6q21 and isolation of a partial cDNA encoding a variant laminin A chain
A J Richards, L al-Imara, N P Carter, et al.
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 imperfecta
L A Dickson, T Pihlajaniemi, S Deak, et al.
The Journal of Investigative Dermatology
|
June 1, 1996
The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II
N P Burrows, A C Nicholls, J R Yates, et al.
Clinical and Experimental Dermatology
|
September 25, 2016
Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness
S M C George, A Vandersteen, E Nigar, 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 pedigree
A C Nicholls, A De Paepe, P Narcisi, et al.
Page
of 17
Search research articles
Search
Showing results (121-130 of 168) with videos related to
Sort By:
Page
of 17
Journal of Medical Genetics
|
November 1, 1996
An exon skipping mutation of a type V collagen gene (COL5A1) in Ehlers-Danlos syndrome
A 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 VIIB
F M Pope, A C Nicholls, A Palan, et al.
Annals of the New York Academy of Sciences
|
June 8, 1996
Stickler syndrome type 2 and linkage to the COL11A1 gene
M P Snead, J R Yates, R Williams, et al.
Archives of Dermatology
|
January 1, 1979
Cutaneous histologic features in Ehlers-Danlos syndrome: study of 21 patients
V I Sulica, P H Cooper, F M Pope, et al.
British Dental Journal
|
October 7, 1989
A Polish variant of isolated dentinogenesis imperfecta with a generalised connective tissue defect
A Komorowska, D Rozynkowa, K W Lee, et al.
Genomics
|
July 1, 1994
Localization of the gene (LAMA4) to chromosome 6q21 and isolation of a partial cDNA encoding a variant laminin A chain
A J Richards, L al-Imara, N P Carter, et al.
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 imperfecta
L A Dickson, T Pihlajaniemi, S Deak, et al.
The Journal of Investigative Dermatology
|
June 1, 1996
The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/II
N P Burrows, A C Nicholls, J R Yates, et al.
Clinical and Experimental Dermatology
|
September 25, 2016
Two patients with Ehlers-Danlos syndrome type VIII with unexpected hoarseness
S M C George, A Vandersteen, E Nigar, 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 pedigree
A C Nicholls, A De Paepe, P Narcisi, et al.
Page
of 17