about
Rothmund-Thomson Syndrome: novel pathogenic mutations and frequencies of variants in the RECQL4 and USB1 (C16orf57) gene.Validation of diagnostic codes for Charcot-Marie-Tooth disease in the Danish National Patient RegistryMagnetic resonance neurography and diffusion tensor imaging of the peripheral nerves in patients with Charcot-Marie-Tooth Type 1A.Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform
P50
description
researcher
@en
name
Signe Vaeth
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type
label
Signe Vaeth
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prefLabel
Signe Vaeth
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P31
P496
0000-0003-2668-9208