Publications by authors named "Dea Svaneby"

7Publications

Phenotypic presentations of Hajdu-Cheney syndrome according to age - 5 distinct clinical presentations.

Eur J Med Genet 2020 Feb 11;63(2):103650. Epub 2019 Apr 11.

Department of Clinical Genetics, Aarhus University Hospital, Denmark; Pediatrics and Adolescent Medicine, Centre for Rare Diseases, Aarhus University Hospital, Denmark.

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183082
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http://dx.doi.org/10.1016/j.ejmg.2019.04.007DOI Listing
February 2020

Absence of an osteopetrosis phenotype in IKBKG (NEMO) mutation-positive women: A case-control study.

Bone 2019 04 16;121:243-254. Epub 2019 Jan 16.

Department of Clinical Research, Faculty of Health, University of Southern Denmark (SDU), Winsløwparken 19. 3, DK-5000 Odense C, Denmark; Department of Clinical Genetics, Odense University Hospital, J.B. Winsløws Vej 4, DK-5000 Odense C, Denmark. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2019.01.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6457251PMC
April 2019

Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene.

Ann Clin Biochem 2013 Jul 4;50(Pt 4):374-9. Epub 2013 Jun 4.

Department of Clinical Biochemistry and Pharmacology, Odense University Hospital, Odense, Denmark.

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http://dx.doi.org/10.1177/0004563213477393DOI Listing
July 2013

The prevalence of X-linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995-2010.

Eur J Med Genet 2013 May 14;56(5):236-42. Epub 2013 Feb 14.

Department of Clinical Epidemiology, Aarhus University Hospital, Olof Palmes Allé 43-45, Aarhus 8200, Denmark.

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http://dx.doi.org/10.1016/j.ejmg.2013.01.012DOI Listing
May 2013

Coralline hydroxyapatite granules inferior to morselized allograft around uncemented porous Ti implants: unchanged fixation by addition of concentrated autologous bone marrow aspirate.

J Biomed Mater Res A 2011 Oct 25;99(1):9-15. Epub 2011 Jul 25.

Orthopaedic Research Laboratory, Aarhus University Hospital, Norrebrogade 44, Build. 1a, 8000 Aarhus C, Denmark.

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http://doi.wiley.com/10.1002/jbm.a.33156
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http://dx.doi.org/10.1002/jbm.a.33156DOI Listing
October 2011