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Journal of Molecular Biology|February 25, 1994
Delayed triple helix formation of mutant collagen from patients with osteogenesis imperfectaM Raghunath, P Bruckner, B SteinmannJournal of Molecular Biology|May 19, 1995
Truncated profibrillin of a Marfan patient is of apparent similar size as fibrillin: intracellular retention leads to over-N-glycosylationM Raghunath, C M Kielty, B SteinmannAmerican Journal of Human Genetics|June 1, 1997
A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactylyC Maslen, D Babcock, M Raghunath, et al.European Journal of Pediatrics|February 1, 1995
Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutationM Raghunath, K Mackay, R Dalgleish, et al.The Journal of Investigative Dermatology|January 1, 1994
Intracellular accumulation of collagen VII in cultured keratinocytes from a patient with dominant dystrophic epidermolysis bullosaA König, M Raghunath, B Steinmann, et al.Human Genetics|January 1, 1993
Decreased extracellular deposition of fibrillin and decorin in neonatal Marfan syndrome fibroblastsM Raghunath, A Superti-Furga, M Godfrey, et al.Journal of Craniofacial Genetics and Developmental Biology|July 1, 1996
Mild dental findings associated with severe osteogenesis imperfecta due to a point mutation in the alpha 2(I) collagen gene demonstrate different expression of the genetic defect in bone and teethH U Luder, H van Waes, M Raghunath, et al.Human Genetics|June 1, 1993
SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type IIK Mackay, A M Lund, M Raghunath, et al.Clinical Genetics|June 1, 1996
Ehlers-Danlos syndrome type IV caused by Gly400Glu, Gly595Cys and Gly1003Asp substitutions in collagen III: clinical features, biochemical screening, and molecular confirmationK Mackay, M Raghunath, A Superti-Furga, et al.European Journal of Human Genetics : EJHG|January 1, 1996
Gly802Asp substitution in the pro alpha 2(I) collagen chain in a family with recurrent osteogenesis imperfecta due to paternal mosaicismA M Lund, M Schwartz, M Raghunath, et al.Pageof 23