Kairit Joost

Kairit Joost

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Kairit Joost

Kairit Joost

Publications by authors named "Kairit Joost"

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De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion.

Neuromuscul Disord 2016 Mar 3;26(3):236-9. Epub 2015 Dec 3.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Institute of Biomedicine and Translational Medicine, Department of Biomedicine, University of Tartu, Tartu, Estonia; Department of Pediatrics, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1016/j.nmd.2015.11.011DOI Listing
March 2016

Distinctive Genetic Profile With IDH1, TP53, and MLH1 Mutations in a Radiation-Induced Anaplastic Astrocytoma.

Pediatr Blood Cancer 2016 Jan 16;63(1):179. Epub 2015 Jul 16.

Istituto Giannina Gaslini, via G. Gaslini 5, 16147 Genoa, Italy.

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http://dx.doi.org/10.1002/pbc.25671DOI Listing
January 2016

The live-birth prevalence of mucopolysaccharidoses in Estonia.

Genet Test Mol Biomarkers 2012 Aug 5;16(8):846-9. Epub 2012 Apr 5.

Institute of Chemistry, Faculty of Sciences, Tallinn University of Technology, Tallinn, Estonia.

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http://www.liebertpub.com/doi/10.1089/gtmb.2011.0307
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http://dx.doi.org/10.1089/gtmb.2011.0307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3422553PMC
August 2012

Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia.

Int J Pediatr Otorhinolaryngol 2010 Sep 18;74(9):1007-12. Epub 2010 Jun 18.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

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http://linkinghub.elsevier.com/retrieve/pii/S016558761000257
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http://dx.doi.org/10.1016/j.ijporl.2010.05.026DOI Listing
September 2010

Splice variant IVS2-2A>G in the SLC26A5 (Prestin) gene in five Estonian families with hearing loss.

Int J Pediatr Otorhinolaryngol 2009 Jan 22;73(1):103-7. Epub 2008 Nov 22.

Department of Oto-Rhino-Laryngology, University of Tartu, Tartu, Estonia.

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http://linkinghub.elsevier.com/retrieve/pii/S016558760800482
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http://dx.doi.org/10.1016/j.ijporl.2008.10.003DOI Listing
January 2009