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A K Lampe

Showing results (1-10 of 10) with videos related to

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Journal of Medical Genetics|September 6, 2005
Collagen VI related muscle disordersA K Lampe, K M D Bushby
Scottish Medical Journal|March 12, 2010
Paediatric referral and attendance rates for the clinical genetics service in south-east Scotland--a comparison of a regional clinic with satellite clinicsS M Holloway, A K Lampe, W W K Lam
Archives of Disease in Childhood|October 23, 2002
Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcomaA K Lampe, G Seymour, P W Thompson, et al.
Journal of Medical Genetics|June 17, 2003
Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndromeA K Lampe, P J Hampton, K Woodford-Richens, et al.
Neurology|April 2, 2008
A refined diagnostic algorithm for Bethlem myopathyD Hicks, A K Lampe, R Barresi, et al.
Neuromuscular Disorders : NMD|August 29, 2006
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutationsC Jimenez-Mallebrera, M A Maioli, J Kim, et al.
Brain : a Journal of Neurology|November 19, 2008
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescueD Hicks, A K Lampe, S H Laval, et al.
Journal of Medical Genetics|February 4, 2005
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathyA K Lampe, D M Dunn, A C von Niederhausern, et al.
Clinical Genetics|February 6, 2004
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutationsG Turner, K M Lower, S M White, et al.
Human Mutation|March 28, 2008
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritanceA K Lampe, Y Zou, D Sudano, et al.
Pageof 1

Showing results (1-10 of 10) with videos related to

Sort By:
Pageof 1
Journal of Medical Genetics|September 6, 2005
Collagen VI related muscle disordersA K Lampe, K M D Bushby
Scottish Medical Journal|March 12, 2010
Paediatric referral and attendance rates for the clinical genetics service in south-east Scotland--a comparison of a regional clinic with satellite clinicsS M Holloway, A K Lampe, W W K Lam
Archives of Disease in Childhood|October 23, 2002
Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcomaA K Lampe, G Seymour, P W Thompson, et al.
Journal of Medical Genetics|June 17, 2003
Laugier-Hunziker syndrome: an important differential diagnosis for Peutz-Jeghers syndromeA K Lampe, P J Hampton, K Woodford-Richens, et al.
Neurology|April 2, 2008
A refined diagnostic algorithm for Bethlem myopathyD Hicks, A K Lampe, R Barresi, et al.
Neuromuscular Disorders : NMD|August 29, 2006
A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutationsC Jimenez-Mallebrera, M A Maioli, J Kim, et al.
Brain : a Journal of Neurology|November 19, 2008
Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescueD Hicks, A K Lampe, S H Laval, et al.
Journal of Medical Genetics|February 4, 2005
Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathyA K Lampe, D M Dunn, A C von Niederhausern, et al.
Clinical Genetics|February 6, 2004
The clinical picture of the Börjeson-Forssman-Lehmann syndrome in males and heterozygous females with PHF6 mutationsG Turner, K M Lower, S M White, et al.
Human Mutation|March 28, 2008
Exon skipping mutations in collagen VI are common and are predictive for severity and inheritanceA K Lampe, Y Zou, D Sudano, et al.
Pageof 1