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A prenatally diagnosed case of Meckel-Gruber syndrome with novel compound heterozygous pathogenic variants in the TXNDC15 gene.
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.
A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies.
Ridnõi K, Muru K, Keernik M, Pajusalu S, Ustav EL, Tammur P, Mölter-Väär T, Kahre T, Šamarina U, Asser K, Szirko F, Reimand T, Õunap K.
Ridnõi K, et al.
Mol Genet Genomic Med. 2021 Oct;9(10):e1787. doi: 10.1002/mgg3.1787. Epub 2021 Sep 6.
Mol Genet Genomic Med. 2021.
PMID: 34486251
Free PMC article.
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Two Consecutive Pregnancies with Simpson-Golabi-Behmel Syndrome Type 1: Case Report and Review of Published Prenatal Cases.
Ridnõi K, Kurvinen E, Pajusalu S, Reimand T, Õunap K.
Ridnõi K, et al.
Mol Syndromol. 2018 Jul;9(4):205-213. doi: 10.1159/000490083. Epub 2018 Jun 8.
Mol Syndromol. 2018.
PMID: 30158844
Free PMC article.
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Creating basis for introducing non-invasive prenatal testing in the Estonian public health setting.
Žilina O, Rekker K, Kaplinski L, Sauk M, Paluoja P, Teder H, Ustav EL, Tõnisson N, Reimand T, Ridnõi K, Palta P, Vermeesch JR, Krjutškov K, Kurg A, Salumets A.
Žilina O, et al. Among authors: ridnoi k.
Prenat Diagn. 2019 Dec;39(13):1262-1268. doi: 10.1002/pd.5578. Epub 2019 Nov 6.
Prenat Diagn. 2019.
PMID: 31691324
German.
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