Murumets Ü - Search Results

1

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency.

Lilleväli H, Pajusalu S, Wojcik MH, Goodrich J, Collins RL, Murumets Ü, Tammur P, Blau N, Lilleväli K, Õunap K. Lilleväli H, et al. Among authors: murumets u. Mol Genet Genomic Med. 2020 Apr;8(4):e1154. doi: 10.1002/mgg3.1154. Epub 2020 Feb 5. Mol Genet Genomic Med. 2020. PMID: 32022462 Free PMC article.

2

Biallelic CACNA1A mutations cause early onset epileptic encephalopathy with progressive cerebral, cerebellar, and optic nerve atrophy.

Reinson K, Õiglane-Shlik E, Talvik I, Vaher U, Õunapuu A, Ennok M, Teek R, Pajusalu S, Murumets Ü, Tomberg T, Puusepp S, Piirsoo A, Reimand T, Õunap K. Reinson K, et al. Among authors: murumets u. Am J Med Genet A. 2016 Aug;170(8):2173-6. doi: 10.1002/ajmg.a.37678. Epub 2016 Jun 2. Am J Med Genet A. 2016. PMID: 27250579

3

Large gene panel sequencing in clinical diagnostics-results from 501 consecutive cases.

Pajusalu S, Kahre T, Roomere H, Murumets Ü, Roht L, Simenson K, Reimand T, Õunap K. Pajusalu S, et al. Among authors: murumets u. Clin Genet. 2018 Jan;93(1):78-83. doi: 10.1111/cge.13031. Epub 2017 Aug 21. Clin Genet. 2018. PMID: 28378410

4

Hyperphenylalaninaemias in Estonia: Genotype-Phenotype Correlation and Comparative Overview of the Patient Cohort Before and After Nation-Wide Neonatal Screening.

Lilleväli H, Reinson K, Muru K, Simenson K, Murumets Ü, Möls T, Õunap K. Lilleväli H, et al. Among authors: murumets u. JIMD Rep. 2018;40:39-45. doi: 10.1007/8904_2017_61. Epub 2017 Sep 28. JIMD Rep. 2018. PMID: 28956315 Free PMC article.

5

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

Puusepp S, Reinson K, Pajusalu S, Murumets Ü, Õiglane-Shlik E, Rein R, Talvik I, Rodenburg RJ, Õunap K. Puusepp S, et al. Among authors: murumets u. Mol Genet Metab Rep. 2018 Mar 15;15:80-89. doi: 10.1016/j.ymgmr.2018.03.004. eCollection 2018 Jun. Mol Genet Metab Rep. 2018. PMID: 30009132 Free PMC article.

6

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

Lilleväli H, Reinson K, Muru K, Saarsalu S, Künnapas K, Kahre T, Murumets Ü, Õunap K. Lilleväli H, et al. Among authors: murumets u. Mol Genet Metab Rep. 2019 Mar 23;19:100467. doi: 10.1016/j.ymgmr.2019.100467. eCollection 2019 Jun. Mol Genet Metab Rep. 2019. PMID: 30963030 Free PMC article.

7

A retrospective analysis of the prevalence of imprinting disorders in Estonia from 1998 to 2016.

Yakoreva M, Kahre T, Žordania R, Reinson K, Teek R, Tillmann V, Peet A, Õiglane-Shlik E, Pajusalu S, Murumets Ü, Vals MA, Mee P, Wojcik MH, Õunap K. Yakoreva M, et al. Among authors: murumets u. Eur J Hum Genet. 2019 Nov;27(11):1649-1658. doi: 10.1038/s41431-019-0446-x. Epub 2019 Jun 11. Eur J Hum Genet. 2019. PMID: 31186545 Free PMC article.

8

The prevalence of germline pathogenic variants in Estonian colorectal cancer patients: results from routine clinical setting 2016-2021.

Roht L, Tooming M, Rekker K, Roomere H, Toome K, Murumets Ü, Šamarina U, Õunap K, Kahre T. Roht L, et al. Among authors: murumets u. Front Genet. 2022 Nov 8;13:1020543. doi: 10.3389/fgene.2022.1020543. eCollection 2022. Front Genet. 2022. PMID: 36425062 Free PMC article.

9

Prenatal diagnosis of a 46,XY karyotype female fetus with an SRY-associated gonadal dysgenesis, conceived through an intracytoplasmic sperm injection: a case report.

Zhytnik L, Peters M, Tilk K, Reimand T, Ilisson P, Kahre T, Murumets Ü, Ehrenberg A, Ustav EL, Tõnisson N, Mölder S, Teder H, Krjutškov K, Salumets A. Zhytnik L, et al. Among authors: murumets u. BMC Pregnancy Childbirth. 2022 Feb 5;22(1):105. doi: 10.1186/s12884-022-04431-6. BMC Pregnancy Childbirth. 2022. PMID: 35123446 Free PMC article.

10

Pharmacogenetics may explain part of the interindividual variability of dobutamine pharmacodynamics in neonates.

Hallik M, Soeorg H, Kahre T, Murumets Ü, Ilmoja ML, Kipper K, Metsvaht T. Hallik M, et al. Among authors: murumets u. Br J Clin Pharmacol. 2022 Sep;88(9):4155-4162. doi: 10.1111/bcp.15357. Epub 2022 Apr 29. Br J Clin Pharmacol. 2022. PMID: 35437830 Free article.

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