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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.The Journal of Investigative Dermatology|June 1, 1996
The gene encoding collagen alpha1(V)(COL5A1) is linked to mixed Ehlers-Danlos syndrome type I/IIN P Burrows, A C Nicholls, J R Yates, 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.Journal of Neurology, Neurosurgery, and Psychiatry|July 1, 1988
Spontaneous carotid cavernous fistula in Ehlers Danlos syndromeR Fox, F M Pope, P Narcisi, et al.American Journal of Human Genetics|July 31, 1998
A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and in Ehlers-Danlos syndrome type II in two British familiesN P Burrows, A C Nicholls, A J Richards, et al.Human Genetics|January 1, 1992
A 27-bp deletion from one allele of the type III collagen gene (COL3A1) in a large family with Ehlers-Danlos syndrome type IVA J Richards, J C Lloyd, P Narcisi, et al.The British Journal of Dermatology|May 1, 1975
Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticumF M PopePageof 12