Search Results - "Panayides, K"
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Friedreich's ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families
Published in Neurology (01-11-1993)“…Friedreich's ataxia (FA) is an autosomal recessive neurodegenerative disorder, the disease locus (FRDA) of which has been assigned to 9q13-q21.1 by genetic…”
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Study of large inbred Friedreich ataxia families reveals a recombination between D9S15 and the disease locus
Published in American journal of human genetics (01-12-1992)“…Friedreich ataxia is a neurodegenerative disorder with autosomal recessive inheritance. Precise linkage mapping of the Friedreich ataxia locus (FRDA) in…”
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Detection of Duchenne and Becker muscular dystrophy carriers by quantitative multiplex polymerase chain reaction analysis
Published in Neurology (01-09-1992)“…We developed a method for the detection of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) carriers. The method is based on the…”
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An integrated system for medical diagnosis: Laboratory findings
Published in 1992 14th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (01-10-1992)“…An integrated multidiscipline computer aided system for the diagnosis of neuromuscular disorders was developed. The system is able to process data based on the…”
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Conference Proceeding