Publications by authors named "Eve Õiglane-Shlik"

15Publications

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

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

Eur J Med Genet 2019 Nov 10;62(11):103572. Epub 2018 Nov 10.

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

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http://dx.doi.org/10.1016/j.ejmg.2018.11.006DOI Listing
November 2019

Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia.

Mol Genet Metab Rep 2018 Jun 15;15:80-89. Epub 2018 Mar 15.

Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, 2 L. Puusepa Street, Tartu 51014, Estonia.

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http://dx.doi.org/10.1016/j.ymgmr.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6043467PMC
June 2018

Incidence of Childhood Epilepsy in Estonia.

J Child Neurol 2018 08 4;33(9):587-592. Epub 2018 Jun 4.

1 Department of Pediatrics, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1177/0883073818776760DOI Listing
August 2018

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Brain 2017 May;140(5):1316-1336

The Danish Epilepsy Centre, Dianalund, Denmark.

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http://dx.doi.org/10.1093/brain/awx054DOI Listing
May 2017

Mosaicism for maternal uniparental disomy 15 in a boy with some clinical features of Prader-Willi syndrome.

Eur J Med Genet 2014 May-Jun;57(6):279-83. Epub 2014 Apr 2.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, University of Tartu, Tartu, Estonia. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.03.007DOI Listing
February 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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http://dx.doi.org/10.1038/ejhg.2014.25DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4200437PMC
November 2014

Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities.

Eur J Paediatr Neurol 2014 May 25;18(3):338-46. Epub 2014 Jan 25.

Department of Pediatrics, Faculty of Medicine, University of Tartu, Tartu, Estonia; Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.

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http://dx.doi.org/10.1016/j.ejpn.2014.01.008DOI Listing
May 2014

A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region.

Am J Med Genet A 2014 Mar 20;164A(3):806-9. Epub 2013 Dec 20.

Department of Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Medical Faculty, University of Tartu, Tartu, Estonia.

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http://dx.doi.org/10.1002/ajmg.a.36358DOI Listing
March 2014

A female with Angelman syndrome and unusual limb deformities.

Pediatr Neurol 2005 Jul;33(1):66-9

Department of Pediatrics, University of Tartu, Tartu, Estonia.

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http://linkinghub.elsevier.com/retrieve/pii/S088789940500106
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http://dx.doi.org/10.1016/j.pediatrneurol.2005.02.004DOI Listing
July 2005