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Human Genetics|March 1, 1995
Elongated CAG repeats of the B37 gene in a Danish family with dentato-rubro-pallido-luysian atrophyA Nørremølle, J E Nielsen, S A Sørensen, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 1, 1996
Dentatorubral-pallidoluysian atrophy. Clinical features of a five-generation Danish familyJ E Nielsen, S A Sørensen, L Hasholt, et al.
Clinical Molecular Pathology|October 1, 1996
SSCP analysis of paraffin wax embedded tissues in a family with an atypical form of Fabry diseaseK M Madsen, L Hasholt, J Berger, et al.
Journal of Medical Genetics|May 1, 1990
A Fabry's disease heterozygote with a new mutation: biochemical, ultrastructural, and clinical investigationsL Hasholt, S A Sørensen, A Wandall, et al.
Scandinavian Journal of Clinical and Laboratory Investigation|April 1, 1996
The utility of single-strand conformation polymorphism (SSCP) analysis: results obtained in families with Fabry's diseaseK M Madsen, L Hasholt, S A Sørensen, et al.
Human Molecular Genetics|September 1, 1993
Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish familiesA Nørremølle, O Riess, J T Epplen, et al.
Hormone Research|November 26, 2002
Fabry disease--a metabolic disorder with a challenge for endocrinologists?U Feldt-Rasmussen, A K Rasmussen, H Mersebach, et al.
Human Mutation|January 29, 2000
Five novel mutations in fourteen patients with Fabry DiseaseK M Rosenberg, R Schiffmann, C Kaneski, et al.
Clinical Genetics|March 3, 2009
4p16.3 haplotype modifying age at onset of Huntington diseaseA Nørremølle, E Budtz-Jørgensen, K Fenger, et al.
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