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Human Mutation
|
January 1, 1996
Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta
A C Nicholls, J Oliver, S McCarron, et al.
Human Molecular Genetics
|
October 1, 1994
Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers-Danlos syndrome type IV
A J Richards, P Narcisi, C Ferguson, et al.
Stroke
|
April 1, 1990
Cerebrovascular disease in Ehlers-Danlos syndrome type IV
W I Schievink, M Limburg, J W Oorthuys, et al.
Clinical and Experimental Dermatology
|
June 5, 2003
Connective tissue naevus (collagenoma) in a patient with benign joint hypermobility syndrome (Ehlers-Danlos syndrome type III)
R U Sidwell, N Francis, R Grahame, et al.
The British Journal of Dermatology
|
August 1, 1991
Platelet and coagulation studies in Ehlers-Danlos syndrome
A Anstey, K Mayne, M Winter, et al.
Journal of Neurosurgery
|
July 1, 1983
Collagen deficiency and ruptured cerebral aneurysms. A clinical and biochemical study
G Neil-Dwyer, J R Bartlett, A C Nicholls, et al.
American Journal of Human Genetics
|
September 1, 1992
Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother
S Kontusaari, G Tromp, H Kuivaniemi, et al.
Journal of the Royal Society of Medicine
|
June 1, 1983
Type III collagen deficiency with normal phenotype
F M Pope, A H Child, A C Nicholls, et al.
The British Journal of Ophthalmology
|
January 1, 1994
Dark adaptation and scotopic perimetry over 'peau d'orange' in pseudoxanthoma elasticum
F G Holz, C Jubb, F W Fitzke, et al.
Journal of the Royal Society of Medicine
|
March 1, 1980
EDS IV (acrogeria): new autosomal dominant and recessive types
F M Pope, A C Nicholls, P M Jones, et al.
Page
of 17
Search research articles
Search
Showing results (81-90 of 168) with videos related to
Sort By:
Page
of 17
Human Mutation
|
January 1, 1996
Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta
A C Nicholls, J Oliver, S McCarron, et al.
Human Molecular Genetics
|
October 1, 1994
Two new mutations affecting the donor splice site of COL3A1 IVS37 and causing skipping of exon 37 in patients with Ehlers-Danlos syndrome type IV
A J Richards, P Narcisi, C Ferguson, et al.
Stroke
|
April 1, 1990
Cerebrovascular disease in Ehlers-Danlos syndrome type IV
W I Schievink, M Limburg, J W Oorthuys, et al.
Clinical and Experimental Dermatology
|
June 5, 2003
Connective tissue naevus (collagenoma) in a patient with benign joint hypermobility syndrome (Ehlers-Danlos syndrome type III)
R U Sidwell, N Francis, R Grahame, et al.
The British Journal of Dermatology
|
August 1, 1991
Platelet and coagulation studies in Ehlers-Danlos syndrome
A Anstey, K Mayne, M Winter, et al.
Journal of Neurosurgery
|
July 1, 1983
Collagen deficiency and ruptured cerebral aneurysms. A clinical and biochemical study
G Neil-Dwyer, J R Bartlett, A C Nicholls, et al.
American Journal of Human Genetics
|
September 1, 1992
Substitution of aspartate for glycine 1018 in the type III procollagen (COL3A1) gene causes type IV Ehlers-Danlos syndrome: the mutated allele is present in most blood leukocytes of the asymptomatic and mosaic mother
S Kontusaari, G Tromp, H Kuivaniemi, et al.
Journal of the Royal Society of Medicine
|
June 1, 1983
Type III collagen deficiency with normal phenotype
F M Pope, A H Child, A C Nicholls, et al.
The British Journal of Ophthalmology
|
January 1, 1994
Dark adaptation and scotopic perimetry over 'peau d'orange' in pseudoxanthoma elasticum
F G Holz, C Jubb, F W Fitzke, et al.
Journal of the Royal Society of Medicine
|
March 1, 1980
EDS IV (acrogeria): new autosomal dominant and recessive types
F M Pope, A C Nicholls, P M Jones, et al.
Page
of 17