Publications by authors named "Iglika Yordanova"

6Publications

Monoallelic expression of the TTR gene as a contributor to the age at onset and penetrance of TTR-related amyloidosis.

Gene 2019 Jul 11;705:16-21. Epub 2019 Apr 11.

Genetic Medico-Diagnostic Laboratory Genica, Sofia, Bulgaria; IMDL Genome Center "Bulgaria", Sofia, Bulgaria; Department of Medical Chemistry and Biochemistry, Medical University Sofia, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.gene.2019.04.030DOI Listing
July 2019

Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene.

Int J Neurosci 2018 Feb 13;128(2):117-124. Epub 2017 Sep 13.

a Department of Medical Chemistry and Biochemistry , Medical University Sofia , Sofia , Bulgaria.

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http://dx.doi.org/10.1080/00207454.2017.1372436DOI Listing
February 2018

First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.

Neurol Sci 2015 Dec 1;36(12):2209-12. Epub 2015 Aug 1.

Department of Medical Chemistry and Biochemistry, Medical University, Sofia, Bulgaria.

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http://dx.doi.org/10.1007/s10072-015-2338-3DOI Listing
December 2015

One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene.

Neurosci Lett 2011 Apr 15;494(2):180-3. Epub 2011 Mar 15.

National Genetic Laboratory, Sofia Medical University, Sofia, Bulgaria.

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http://dx.doi.org/10.1016/j.neulet.2011.03.008DOI Listing
April 2011