Væth, Signe
22  Ergebnisse:
Personensuche X
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3

Genetic analysis of Charcot-Marie-Tooth disease in Denmark ..:

Vaeth, Signe ; Christensen, Rikke ; Dunø, Morten...
European Journal of Medical Genetics.  62 (2019)  1 - p. 1-8 , 2019
 
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8

Rothmund–Thomson Syndrome: novel pathogenic mutations and f..:

Suter, Aude‐Annick ; Itin, Peter ; Heinimann, Karl...
Molecular Genetics & Genomic Medicine.  4 (2016)  3 - p. 359-366 , 2016
 
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10

A novel single nucleotide splice site mutation in FHL1 conf..:

Pen, Anja E. ; Nyegaard, Mette ; Fang, Mingyan...
European Journal of Medical Genetics.  58 (2015)  4 - p. 222-229 , 2015
 
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12

A search for undiagnosed charcot-marie-tooth disease among ..:

Vaeth, Signe ; Andersen, Henning ; Christensen, Rikke.
Vaeth , S , Andersen , H , Christensen , R & Jensen , U B 2021 , ' A search for undiagnosed charcot-marie-tooth disease among patients registered with unspecified polyneuropathy in the danish national patient registry ' , Clinical epidemiology , vol. 13 , pp. 113-120 . https://doi.org/10.2147/CLEP.S292676.  , 2021
 
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15

Genetic analysis of Charcot-Marie-Tooth disease in Denmark ..:

Vaeth, Signe ; Christensen, Rikke ; Dunø, Morten...
Vaeth , S , Christensen , R , Dunø , M , Lildballe , D L , Thorsen , K , Vissing , J , Svenstrup , K , Hertz , J M , Andersen , H & Jensen , U B 2019 , ' Genetic analysis of Charcot-Marie-Tooth disease in Denmark and the implementation of a next generation sequencing platform ' , European Journal of Medical Genetics , vol. 62 , no. 1 , pp. 1-8 . https://doi.org/10.1016/j.ejmg.2018.04.003.  , 2019
 
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