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Ugeskrift for laeger, 11/2014, Volume 176, Issue 46
Journal Article
Ugeskrift for Laeger, ISSN 0041-5782, 12/2014, Volume 176, Issue 26, pp. 2470 - 2474
Journal Article
Biotechnology Reports, 2016, Volume 11, p. 52
In the paper entitled “Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile” by Anne Skakkebæk, Claus... 
Journal Article
BMJ Case Reports, 04/2016, Volume 2016
Journal Article
Brain Pathology, ISSN 1015-6305, 03/2018, Volume 28, Issue 2, pp. 292 - 294
Journal Article
Ugeskrift for laeger, 07/2015, Volume 177, Issue 30
Erythropoietic protoporphyria (EPP) is rare genetic disease caused by decreased activity of the eighth enzyme in the haem synthesis. Patients are... 
Humans | Search Engine | Adult | Diagnostic Self Evaluation | Female | Protoporphyria, Erythropoietic - diagnosis | Protoporphyria, Erythropoietic - pathology
Journal Article
Ugeskrift for laeger, 07/2014, Volume 176, Issue 29, p. V11130688
A new classification of inherited ichthyoses is presented based on clinical features, genetic background and pathophysiology. Ichthyoses are disorders of... 
Ichthyosis - pathology | Genetic Predisposition to Disease | Ichthyosis - classification | Humans | Ichthyosis - drug therapy | Ichthyosis - genetics | Dermatologic Agents - therapeutic use | Skin - pathology
Journal Article
Ugeskrift for Laeger, ISSN 0041-5782, 05/2009, Volume 171, Issue 20, p. 1692
Journal Article
Ugeskrift for laeger, 08/2015, Volume 177, Issue 32, p. V12140755
Noonan syndrome is part of the group of RASopathies caused by germ line mutations in genes involved in the RAS/MAPK pathway. There is substantial phenotypic... 
Noonan Syndrome - pathology | Humans | Noonan Syndrome - physiopathology | Noonan Syndrome - genetics | ras Proteins - physiology | Noonan Syndrome - diagnosis | MAP Kinase Signaling System
Journal Article
Ugeskrift for laeger, 02/2014, Volume 176, Issue 8A, p. V06130413
Porphyrias are rare, distinct and well characterized diseases due to impairment of one of the eight steps in the biosynthesis of haem, which is the functional... 
Acute Disease | Porphyrias - genetics | Heme - biosynthesis | Humans | Porphyrias - enzymology | Rare Diseases | Porphyrias - diagnosis | Porphyrins - biosynthesis
Journal Article
Ugeskrift for Laeger, ISSN 0041-5782, 03/2013, Volume 175, Issue 12, p. 818
Journal Article
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