Publications by authors named "Ekaterina Kuchinskaya"

10Publications

Preventive medicine of von Hippel-Lindau disease-associated pancreatic neuroendocrine tumors.

Endocr Relat Cancer 2018 09 10;25(9):783-793. Epub 2018 May 10.

Department of Medicine IIFaculty of Medicine, Medical Center - University of Freiburg, University of Freiburg, Freiburg, Germany

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http://dx.doi.org/10.1530/ERC-18-0100DOI Listing
September 2018

Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.

Am J Med Genet B Neuropsychiatr Genet 2018 Jan 9;177(1):10-20. Epub 2017 Oct 9.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1002/ajmg.b.32574DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5765476PMC
January 2018

Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.

Orphanet J Rare Dis 2016 Jan 4;11. Epub 2016 Jan 4.

Department of Paediatrics and Department of Clinical and Experimental Medicine, Linköping University, Norrköping, Sweden.

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http://dx.doi.org/10.1186/s13023-015-0380-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4700746PMC
January 2016