Publications by authors named "Mari-Anne Vals"

11Publications

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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June 2018

The Prevalence of PMM2-CDG in Estonia Based on Population Carrier Frequencies and Diagnosed Patients.

JIMD Rep 2018 7;39:13-17. Epub 2017 Jul 7.

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

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July 2017

Three families with mild PMM2-CDG and normal cognitive development.

Am J Med Genet A 2017 Jun 19;173(6):1620-1624. Epub 2017 Apr 19.

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

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June 2017

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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September 2015

Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B gene.

Eur J Hum Genet 2014 Nov 26;22(11):1327-9. Epub 2014 Feb 26.

1] Department of Paediatrics, University of Tartu, Tartu, Estonia [2] United Laboratories, Department of Genetics, Tartu University Hospital, Tartu, Estonia.

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November 2014

Follow-up study of 2-year-olds born at very low gestational age in Estonia.

Acta Paediatr 2013 Mar 11;102(3):300-7. Epub 2012 Dec 11.

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

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March 2013