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F M Pope

Showing results (81-90 of 168) with videos related to

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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 imperfectaA 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 IVA J Richards, P Narcisi, C Ferguson, et al.
Stroke|April 1, 1990
Cerebrovascular disease in Ehlers-Danlos syndrome type IVW 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 syndromeA Anstey, K Mayne, M Winter, et al.
Journal of Neurosurgery|July 1, 1983
Collagen deficiency and ruptured cerebral aneurysms. A clinical and biochemical studyG 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 motherS Kontusaari, G Tromp, H Kuivaniemi, et al.
Journal of the Royal Society of Medicine|June 1, 1983
Type III collagen deficiency with normal phenotypeF 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 elasticumF 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 typesF M Pope, A C Nicholls, P M Jones, et al.
Pageof 17

Showing results (81-90 of 168) with videos related to

Sort By:
Pageof 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 imperfectaA 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 IVA J Richards, P Narcisi, C Ferguson, et al.
Stroke|April 1, 1990
Cerebrovascular disease in Ehlers-Danlos syndrome type IVW 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 syndromeA Anstey, K Mayne, M Winter, et al.
Journal of Neurosurgery|July 1, 1983
Collagen deficiency and ruptured cerebral aneurysms. A clinical and biochemical studyG 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 motherS Kontusaari, G Tromp, H Kuivaniemi, et al.
Journal of the Royal Society of Medicine|June 1, 1983
Type III collagen deficiency with normal phenotypeF 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 elasticumF 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 typesF M Pope, A C Nicholls, P M Jones, et al.
Pageof 17