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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 4, 2024. (Total: 234082Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Efficiency and MPZ[original query]
Screening for mutations in a genetically heterogeneous disorder: DHPLC versus DNA sequence for mutation detection in multiple genes causing Charcot-Marie-Tooth neuropathy.
Genetics in medicine : official journal of the American College of Medical Genetics 0 3 (5): 335-42.
Takashima H, Boerkoel C F, Lupski J
Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencing.
BioMed research international 2014 2014 210401.
Høyer Helle, Braathen Geir J, Busk Øyvind L, Holla Øystein L, Svendsen Marit, Hilmarsen Hilde T, Strand Linda, Skjelbred Camilla F, Russell Michael
Target-enrichment sequencing and copy number evaluation in inherited polyneuropathy.
Neurology 2016 May 86 (19): 1762-71.
Wang Wei, Wang Chen, Dawson D Brian, Thorland Erik C, Lundquist Patrick A, Eckloff Bruce W, Wu Yanhong, Baheti Saurabh, Evans Jared M, Scherer Steven S, Dyck Peter J, Klein Christopher
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