Publications by authors named "Sanna Puusepp"

8Publications

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.

Mol Genet Metab Rep 2018 Jun 15;15:80-89. Epub 2018 Mar 15.

Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 2 L. Puusepa Street, Tartu 51014, Estonia.

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http://dx.doi.org/10.1016/j.ymgmr.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043467PMC
June 2018

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

Two familial microduplications of 15q26.3 causing overgrowth and variable intellectual disability with normal copy number of IGF1R.

Eur J Med Genet 2016 Apr 12;59(4):257-62. Epub 2015 Dec 12.

Genetics of Learning Disability Service, Hunter Genetics, Waratah, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.12.002DOI Listing
April 2016

Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities.

Eur J Paediatr Neurol 2014 May 25;18(3):338-46. Epub 2014 Jan 25.

Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

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http://dx.doi.org/10.1016/j.ejpn.2014.01.008DOI Listing
May 2014