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Validation of diagnostic codes for Charcot–Marie–Tooth disease in the Danish National Patient Registry 著者: Vaeth, Signe, Jensen, Uffe Birk, Christensen, Rikke, Andersen, Henning

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A Search for Undiagnosed Charcot-Marie-Tooth Disease Among Patients Registered with Unspecified Polyneuropathy in the Danish National Patient Registry 著者: Vaeth, Signe, Andersen, Henning, Christensen, Rikke, Jensen, Uffe Birk

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Charcot-Marie-Tooth disease in Denmark: a nationwide register-based study of mortality, prevalence and incidence 著者: Vaeth, Signe, Vaeth, Michael, Andersen, Henning, Christensen, Rikke, Jensen, Uffe Birk

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Rothmund–Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene 著者: Suter, Aude‐Annick, Itin, Peter, Heinimann, Karl, Ahmed, Munaza, Ashraf, Tazeen, Fryssira, Helen, Kini, Usha, Lapunzina, Pablo, Miny, Peter, Sommerlund, Mette, Suri, Mohnish, Vaeth, Signe, Vasudevan, Pradeep, Gallati, Sabina

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