Publications by authors named "Kairit Joost"

12Publications

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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March 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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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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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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January 2009