Irena Vrecar

Irena Vrecar

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Irena Vrecar

Irena Vrecar

Publications by authors named "Irena Vrecar"

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6Publications

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PEDIA: prioritization of exome data by image analysis.

Genet Med 2019 Jun 5. Epub 2019 Jun 5.

Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany.

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http://dx.doi.org/10.1038/s41436-019-0566-2DOI Listing
June 2019

Further Clinical Delineation of the MEF2C Haploinsufficiency Syndrome: Report on New Cases and Literature Review of Severe Neurodevelopmental Disorders Presenting with Seizures, Absent Speech, and Involuntary Movements.

J Pediatr Genet 2017 Sep 12;6(3):129-141. Epub 2017 Apr 12.

Manchester Centre for Genomic Medicine, Central Manchester University Hospitals NHS Foundation Trust, Academic Health Sciences Centre, Manchester, United Kingdom.

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http://dx.doi.org/10.1055/s-0037-1601335DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548525PMC
September 2017

Telegenetics: an Update on Availability and Use of Telemedicine in Clinical Genetics Service.

J Med Syst 2017 Feb 17;41(2):21. Epub 2016 Dec 17.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.1007/s10916-016-0666-3DOI Listing
February 2017

Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss.

Mol Cytogenet 2015 31;8:83. Epub 2015 Oct 31.

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Slajmerjeva 3, SI-1000 Ljubljana, Slovenia.

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http://www.molecularcytogenetics.org/content/8/1/83
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http://dx.doi.org/10.1186/s13039-015-0187-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628305PMC
November 2015

Direct-to-consumer genetic testing in Slovenia: availability, ethical dilemmas and legislation.

Biochem Med (Zagreb) 2015 ;25(1):84-9

Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia.

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http://dx.doi.org/10.11613/BM.2015.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4401315PMC
March 2015

Content validity and inter-rater reliability of the Halliwick-concept-based instrument 'Swimming with Independent Measure'.

Int J Rehabil Res 2012 Jun;35(2):116-23

University Rehabilitation Institute of Republic of Slovenia, Slovenia.

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http://dx.doi.org/10.1097/MRR.0b013e32835277abDOI Listing
June 2012