Pia Pohjola

Pia Pohjola

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Pia Pohjola

Pia Pohjola

Publications by authors named "Pia Pohjola"

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Challenges raised by cross-border testing of rare diseases in the European union.

Eur J Hum Genet 2016 11 6;24(11):1547-1552. Epub 2016 Jul 6.

National Institute for Health and Welfare, Helsinki, Finland.

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http://dx.doi.org/10.1038/ejhg.2016.70DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5110067PMC
November 2016

Translation of a research-based genetic test on a rare syndrome into clinical service testing, with sotos syndrome as an example.

Genet Test Mol Biomarkers 2012 Oct 27;16(10):1188-94. Epub 2012 Aug 27.

Department of Medical Biochemistry and Genetics, Institute of Biomedicine, University of Turku, Turku, Finland.

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http://www.liebertpub.com/doi/10.1089/gtmb.2012.0153
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http://dx.doi.org/10.1089/gtmb.2012.0153DOI Listing
October 2012

Terminal 3p deletions in two families--correlation between molecular karyotype and phenotype.

Am J Med Genet A 2010 Feb;152A(2):441-6

Department of Medical Biochemistry and Genetics, University of Turku, Turku, Finland.

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http://dx.doi.org/10.1002/ajmg.a.33215DOI Listing
February 2010

Premolar hypodontia is a common feature in Sotos syndrome with a mutation in the NSD1 gene.

Am J Med Genet A 2009 Nov;149A(11):2409-14

Department of Orthodontics, Institute of Dentistry, University of Helsinki, Helsinki, Finland.

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http://dx.doi.org/10.1002/ajmg.a.33062DOI Listing
November 2009