Publications by authors named "Signe Vaeth"

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

Clin Epidemiol· February 2021

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Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform.
Signe Vaeth, Rikke Christensen, Morten Dunø, Dorte Launholt Lildballe, Kasper Thorsen

Eur J Med Genet· January 2019

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Magnetic resonance neurography and diffusion tensor imaging of the peripheral nerves in patients with Charcot-Marie-Tooth Type 1A.
Michael Vaeggemose, Signe Vaeth, Mirko Pham, Steffen Ringgaard, Uffe B Jensen

Muscle Nerve· December 2017

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

BMJ Open· November 2017

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

Clin Epidemiol· November 2016

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Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.
Aude-Annick Suter, Peter Itin, Karl Heinimann, Munaza Ahmed, Tazeen Ashraf, Signe Vaeth

Mol Genet Genomic Med· May 2016

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A novel single nucleotide splice site mutation in FHL1 confirms an Emery-Dreifuss plus phenotype with pulmonary artery hypoplasia and facial dysmorphology.
Anja E Pen, Mette Nyegaard, Mingyan Fang, Hui Jiang, Rikke Christensen

Eur J Med Genet· April 2015

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Epstein-Barr virus infection leads to partial phenotypic reversion of terminally differentiated malignant B cells.
Eleni Anastasiadou, Signe Vaeth, Laura Cuomo, Francesco Boccellato, Sara Vincenti

Cancer Lett· November 2009

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