Literature DB >> 26442729

[Where is the boundary between diagnostics and research?].

Gunnar Houge.   

Abstract

Mesh：

Year:  2015        PMID： 26442729     DOI： 10.4045/tidsskr.15.0817

Source DB:  PubMed          Journal:  Tidsskr Nor Laegeforen        ISSN： 0029-2001


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  2 in total

1.  A de novo Ser111Thr variant in aquaporin-4 in a patient with intellectual disability, transient signs of brain ischemia, transient cardiac hypertrophy, and progressive gait disturbance.

Authors:  Siren Berland; Trine L Toft-Bertelsen; Ingvild Aukrust; Jan Byska; Marc Vaudel; Laurence A Bindoff; Nanna MacAulay; Gunnar Houge
Journal:  Cold Spring Harb Mol Case Stud       Date:  2018-02-01

2.  The blended phenotype of a germline RIT1 and a mosaic PIK3CA variant.

Authors:  Siren Berland; Jørgen Jareld; Nicholas Hickson; Helene Schlecht; Gunnar Houge; Sofia Douzgou
Journal:  Cold Spring Harb Mol Case Stud       Date:  2021-12-09
  2 in total

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