Publications by authors named "Kai Muru"

12Publications

FLAD1-associated multiple acyl-CoA dehydrogenase deficiency identified by newborn screening.

Mol Genet Genomic Med 2019 09 8;7(9):e915. Epub 2019 Aug 8.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/mgg3.915
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http://dx.doi.org/10.1002/mgg3.915DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6732309PMC
September 2019

PEHO syndrome caused by compound heterozygote variants in ZNHIT3 gene.

Eur J Med Genet 2020 Feb 29;63(2):103660. Epub 2019 Apr 29.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1016/j.ejmg.2019.04.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819237PMC
February 2020

The evaluation of phenylalanine levels in Estonian phenylketonuria patients during eight years by electronic laboratory records.

Mol Genet Metab Rep 2019 Jun 23;19:100467. Epub 2019 Mar 23.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

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http://dx.doi.org/10.1016/j.ymgmr.2019.100467DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434493PMC
June 2019

High incidence of low vitamin B12 levels in Estonian newborns.

Mol Genet Metab Rep 2018 Jun 11;15:1-5. Epub 2018 Jan 11.

Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1016/j.ymgmr.2017.11.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772002PMC
June 2018

Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes.

Mol Syndromol 2015 Sep 24;6(3):147-51. Epub 2015 Jul 24.

Department of Genetics, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1159/000437061DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4698645PMC
September 2015

Leopard syndrome: a report of five cases from one family in two generations.

Eur J Pediatr 2014 Jun 9;173(6):819-22. Epub 2014 Jan 9.

Department of Pediatrics, General Hospital "Dr. Irfan Ljubijankić", Bihać, Bosnia and Herzegovina.

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http://dx.doi.org/10.1007/s00431-013-2243-9DOI Listing
June 2014

Prospective experience with contingent screening strategy for Down syndrome in Estonia.

J Community Genet 2010 Sep 2;1(3):133-8. Epub 2010 Oct 2.

Department of Paediatrics, University of Tartu, Tartu, Estonia,

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http://dx.doi.org/10.1007/s12687-010-0020-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185994PMC
September 2010

LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature.

Eur J Pediatr 2010 Apr 20;169(4):469-73. Epub 2009 Sep 20.

Department of Human Biology and Genetics, Institute of General and Molecular Pathology, University of Tartu, Tartu, Estonia.

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http://search.proquest.com/openview/91fc7e1ca3c4d7eb7c87e389
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http://link.springer.com/10.1007/s00431-009-1058-1
Publisher Site
http://dx.doi.org/10.1007/s00431-009-1058-1DOI Listing
April 2010

Psoriasis vulgaris in a male with partial deletion 18p.

Am J Med Genet 2002 Mar;108(3):252-3

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http://dx.doi.org/10.1002/ajmg.10259DOI Listing
March 2002