Vaidla E - Search Results

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Descriptive epidemiology of spinal muscular atrophy type I in Estonia.

Vaidla E, Talvik I, Kulla A, Kahre T, Hamarik M, Napa A, Metsvaht T, Piirsoo A, Talvik T. Vaidla E, et al. Neuroepidemiology. 2006;27(3):164-8. doi: 10.1159/000096128. Neuroepidemiology. 2006. PMID: 17035693

Neonatal spinal muscular atrophy type 1 with bone fractures and heart defect.

Vaidla E, Talvik I, Kulla A, Sibul H, Maasalu K, Metsvaht T, Piirsoo A, Talvik T. Vaidla E, et al. J Child Neurol. 2007 Jan;22(1):67-70. doi: 10.1177/0883073807299954. J Child Neurol. 2007. PMID: 17608308

The Birth Prevalence of Spinal Muscular Atrophy: A Population Specific Approach in Estonia.

Sarv S, Kahre T, Vaidla E, Pajusalu S, Muru K, Põder H, Gross-Paju K, Ütt S, Žordania R, Talvik I, Õiglane-Shlik E, Muhu K, Õunap K. Sarv S, et al. Among authors: vaidla e. Front Genet. 2021 Dec 22;12:796862. doi: 10.3389/fgene.2021.796862. eCollection 2021. Front Genet. 2021. PMID: 35003227 Free PMC article.

A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.

Ridnõi K, Šois M, Vaidla E, Pajusalu S, Kelder L, Reimand T, Õunap K. Ridnõi K, et al. Among authors: vaidla e. Mol Genet Genomic Med. 2019 May;7(5):e614. doi: 10.1002/mgg3.614. Epub 2019 Mar 9. Mol Genet Genomic Med. 2019. PMID: 30851085 Free PMC article.

Chromosomal microarray analysis as a first-tier clinical diagnostic test: Estonian experience.

Zilina O, Teek R, Tammur P, Kuuse K, Yakoreva M, Vaidla E, Mölter-Väär T, Reimand T, Kurg A, Ounap K. Zilina O, et al. Among authors: vaidla e. Mol Genet Genomic Med. 2014 Mar;2(2):166-75. doi: 10.1002/mgg3.57. Epub 2014 Jan 9. Mol Genet Genomic Med. 2014. PMID: 24689080 Free PMC article.

Alpha-1 antitrypsin phenotypes in patients with Klinefelter's syndrome.

Mikelsaar R, Lissitsina J, Ausmees K, Punab M, Korrovits P, Vaidla E. Mikelsaar R, et al. Among authors: vaidla e. J Genet. 2010 Dec;89(4):485-8. doi: 10.1007/s12041-010-0069-z. J Genet. 2010. PMID: 21273701 No abstract available.

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