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Human Molecular Genetics
|
June 13, 1998
Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency
S R Lamandé, J F Bateman, W Hutchison, et al.
Molecular and Cellular Biology
|
April 1, 1990
Human-mouse interspecies collagen I heterotrimer is functional during embryonic development of Mov13 mutant mouse embryos
H Wu, J F Bateman, A Schnieke, et al.
The Journal of Biological Chemistry
|
October 5, 1990
A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV
W G Cole, A A Chiodo, S R Lamande, et al.
Clinical Materials
|
December 10, 1991
Osteogenic capacity of collagen in repair of established periodontal defects
G Ellender, R Hammond, R Papli, et al.
Osteoarthritis and Cartilage
|
September 14, 2016
Utility of circulating serum miRNAs as biomarkers of early cartilage degeneration in animal models of post-traumatic osteoarthritis and inflammatory arthritis
L H W Kung, S Zaki, V Ravi, et al.
The Journal of Biological Chemistry
|
April 14, 1995
Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly
S R Lamandé, S D Chessler, S B Golub, et al.
American Journal of Medical Genetics
|
July 17, 1995
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome
L C Adès, L L Morris, R G Power, et al.
Human Mutation
|
April 29, 1999
Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability
J F Bateman, S Freddi, S R Lamandé, et al.
American Journal of Medical Genetics
|
December 18, 1996
Clinicopathologic findings in congenital aneurysms of the great vessels
L C Adès, W B Knight, R W Byard, et al.
Journal of Medical Genetics
|
August 3, 2005
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain
G McGillivray, R Savarirayan, T C Cox, et al.
Page
of 10
Search research articles
Search
Showing results (81-90 of 97) with videos related to
Sort By:
Page
of 10
Human Molecular Genetics
|
June 13, 1998
Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency
S R Lamandé, J F Bateman, W Hutchison, et al.
Molecular and Cellular Biology
|
April 1, 1990
Human-mouse interspecies collagen I heterotrimer is functional during embryonic development of Mov13 mutant mouse embryos
H Wu, J F Bateman, A Schnieke, et al.
The Journal of Biological Chemistry
|
October 5, 1990
A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV
W G Cole, A A Chiodo, S R Lamande, et al.
Clinical Materials
|
December 10, 1991
Osteogenic capacity of collagen in repair of established periodontal defects
G Ellender, R Hammond, R Papli, et al.
Osteoarthritis and Cartilage
|
September 14, 2016
Utility of circulating serum miRNAs as biomarkers of early cartilage degeneration in animal models of post-traumatic osteoarthritis and inflammatory arthritis
L H W Kung, S Zaki, V Ravi, et al.
The Journal of Biological Chemistry
|
April 14, 1995
Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly
S R Lamandé, S D Chessler, S B Golub, et al.
American Journal of Medical Genetics
|
July 17, 1995
Distinct skeletal abnormalities in four girls with Shprintzen-Goldberg syndrome
L C Adès, L L Morris, R G Power, et al.
Human Mutation
|
April 29, 1999
Reliable and sensitive detection of premature termination mutations using a protein truncation test designed to overcome problems of nonsense-mediated mRNA instability
J F Bateman, S Freddi, S R Lamandé, et al.
American Journal of Medical Genetics
|
December 18, 1996
Clinicopathologic findings in congenital aneurysms of the great vessels
L C Adès, W B Knight, R W Byard, et al.
Journal of Medical Genetics
|
August 3, 2005
Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain
G McGillivray, R Savarirayan, T C Cox, et al.
Page
of 10