Publications by authors named "Mateja Smogavec"

6Publications

Down syndrome phenotype in a boy with a mosaic microduplication of chromosome 21q22.

Mol Cytogenet 2018 29;11:62. Epub 2018 Dec 29.

1Institute of Human Genetics, University Medical Center, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.

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http://dx.doi.org/10.1186/s13039-018-0410-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6310980PMC
December 2018

Novel fukutin mutations in limb-girdle muscular dystrophy type 2M with childhood onset.

Neurol Genet 2017 Aug 10;3(4):e167. Epub 2017 Jul 10.

Institute of Human Genetics (M.S., B.Z., S.P.), Department of Neurology (J.Z., J.S.), and Department of Neuroradiology (P.H.), University Medical Center Göttingen; Department of Human Genetics (W.K.), University of Würzburg; and CeGaT GmbH und Praxis für Humangenetik (J.M.), Tübingen, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000167DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5524525PMC
August 2017

Intragenic duplication of EHMT1 gene results in Kleefstra syndrome.

Mol Cytogenet 2014 23;7(1):74. Epub 2014 Oct 23.

Institute of Human Genetics, Georg August University, Heinrich-Düker-Weg 12, 37073 Göttingen, Germany.

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http://dx.doi.org/10.1186/s13039-014-0074-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209064PMC
October 2014

Health-related quality of life: a population based study from Slovenia.

Cent Eur J Public Health 2011 Mar;19(1):7-12

Department of Family Medicine, Medical School, University of Maribor, Slovenia.

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March 2011