Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
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Strong Clustering and Stereotyped Nature of Notch3 Mutations, in CADASIL Patients
Lancet 350:1511-1515, 14901997., Joutel,A.,et al, 1997
Misdiagnosis Revealed by Genetic Linkage Analysis in a Family with Wilson Disease
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Machado Joseph Disease Maps to Same Region of Chromosome 14 as Spinocerebellar Ataxia Type 3 Locus
J Med Genet 32:25-31, Twist,E.C.,et al, 1995
Central Nervous System Lesions in von Hippel-Lindau Syndrome
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