Published in Hum Mol Genet on December 01, 1992
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Absence of linkage of hereditary motor and sensory neuropathy type I to chromosome 1 markers. Genomics (1989) 2.00
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The clinical and diagnostic implications of mosaicism in the neurofibromatoses. Neurology (2001) 1.82
Genetic linkage confirmed between the locus for myotonic dystrophy and the ABH-secretion and Lutheran blood group loci. Am J Hum Genet (1972) 1.82
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Decline in the predicted incidence of Huntington's chorea associated with systematic genetic counselling and family support. Lancet (1981) 1.64
Detection of linkage disequilibrium between the myotonic dystrophy locus and a new polymorphic DNA marker. Am J Hum Genet (1991) 1.64
Paternal origin of new mutations in von Recklinghausen neurofibromatosis. Nature (1990) 1.64
Evidence from family studies that the gene causing Huntington disease is telomeric to D4S95 and D4S90. Am J Hum Genet (1989) 1.64
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Long-read sequence analysis of the MECP2 gene in Rett syndrome patients: correlation of disease severity with mutation type and location. Hum Mol Genet (2000) 1.61
Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin. Hum Mol Genet (1999) 1.59
Family history taking and genetic counselling in primary care. Fam Pract (1999) 1.58
A genetic register for Huntington's chorea in South Wales. J Med Genet (1982) 1.56
Localization of a human Na+,K+-ATPase alpha subunit gene to chromosome 19q12----q13.2 and linkage to the myotonic dystrophy locus. Genomics (1988) 1.55
Absence of genetic heterogeneity in Duchenne muscular dystrophy shown by a linkage study using two cloned DNA sequences. J Med Genet (1983) 1.54
Becker muscular dystrophy: correlation of deletion type with clinical severity. J Med Genet (1990) 1.50
TNIK, a novel member of the germinal center kinase family that activates the c-Jun N-terminal kinase pathway and regulates the cytoskeleton. J Biol Chem (1999) 1.50
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Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees. Mov Disord (1997) 1.49
MASA syndrome: further clinical delineation and chromosomal localisation. Hum Genet (1989) 1.49
Portable stove use is associated with lower lung cancer mortality risk in lifetime smoky coal users. Br J Cancer (2008) 1.47
Mild form of Hunter's syndrome: clinical delineation based on 31 cases. Arch Dis Child (1982) 1.46
Age of onset in Huntington disease: sex specific influence of apolipoprotein E genotype and normal CAG repeat length. J Med Genet (1999) 1.45
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