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Authors: Per M. Knappskog
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Journal Article

Potential Transcriptional Biomarkers to Guide Glucocorticoid Replacement in Autoimmune Addison’s Disease Open Access

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Åse Bjorvatn Sævik and others
Journal of the Endocrine Society, Volume 5, Issue 3, March 2021, bvaa202, https://doi.org/10.1210/jendso/bvaa202
Published: 04 January 2021
Journal Article

No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson’s disease Open Access

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Johannes J Gaare and others
Brain, Volume 141, Issue 3, March 2018, Page e16, https://doi.org/10.1093/brain/awx378
Published: 24 January 2018
Journal Article

Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1 Free

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Elizaveta M Orlova and others
The Journal of Clinical Endocrinology & Metabolism, Volume 102, Issue 9, 1 September 2017, Pages 3546–3556, https://doi.org/10.1210/jc.2017-00139
Published: 20 July 2017
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BRCA Testing by Single-Molecule Molecular Inversion Probes Get access

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Kornelia Neveling and others
Clinical Chemistry, Volume 63, Issue 2, 1 February 2017, Pages 503–512, https://doi.org/10.1373/clinchem.2016.263897
Published: 01 February 2017
Includes: Multimedia
Journal Article

A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1 Open Access

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Øyvind Bruserud and others
The Journal of Clinical Endocrinology & Metabolism, Volume 101, Issue 8, 1 August 2016, Pages 2975–2983, https://doi.org/10.1210/jc.2016-1821
Published: 01 August 2016
Journal Article

Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease Get access

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Ng'weina F. Magitta and others
European Journal of Endocrinology, Volume 158, Issue 5, May 2008, Pages 705–709, https://doi.org/10.1530/EJE-07-0843
Published: 01 May 2008
Journal Article

Brain-specific tryptophan hydroxylase 2 (TPH2): a functional Pro206Ser substitution and variation in the 5′-region are associated with bipolar affective disorder Open Access

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Sven Cichon and others
Human Molecular Genetics, Volume 17, Issue 1, 1 January 2008, Pages 87–97, https://doi.org/10.1093/hmg/ddm286
Published: 27 September 2007
Journal Article

Autoimmune Polyendocrine Syndrome Type 1 in Norway: Phenotypic Variation, Autoantibodies, and Novel Mutations in the Autoimmune Regulator Gene Get access

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Anette S. B. Wolff and others
The Journal of Clinical Endocrinology & Metabolism, Volume 92, Issue 2, 1 February 2007, Pages 595–603, https://doi.org/10.1210/jc.2006-1873
Published: 01 February 2007
Journal Article

Recessively Inherited L-DOPA-Responsive Parkinsonism In Infancy Caused by A Point Mutation (L205p) in the Tyrosine Hydroxylase Gene Get access

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Barbara Lüdecke and others
Human Molecular Genetics, Volume 5, Issue 7, 1 July 1996, Pages 1023–1028, https://doi.org/10.1093/hmg/5.7.1023
Published: 01 July 1996
Journal Article

Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q381K) in the tyrosine hydroxylase gene Get access

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Per M. Knappskog and others
Human Molecular Genetics, Volume 4, Issue 7, July 1995, Pages 1209–1212, https://doi.org/10.1093/hmg/4.7.1209
Published: 01 July 1995