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Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype.
Paderova J, Drabova J, Holubova A, Vlckova M, Havlovicova M, Gregorova A, Pourova R, Romankova V, Moslerova V, Geryk J, Norambuena P, Krulisova V, Krepelova A, Macek M Sr, Macek M Jr. Paderova J, et al. Among authors: pourova r. Eur J Med Genet. 2018 Jun;61(6):315-321. doi: 10.1016/j.ejmg.2018.01.005. Epub 2018 Jan 4. Eur J Med Genet. 2018. PMID: 29307790
Molecular genetic analysis in 14 Czech Kabuki syndrome patients is confirming the utility of phenotypic scoring.
Paděrová J, Holubová A, Simandlová M, Puchmajerová A, Vlčková M, Malíková M, Pourová R, Vejvalková S, Havlovicová M, Šenkeříková M, Ptáková N, Drábová J, Geryk J, Maver A, Křepelová A, Macek M Jr. Paděrová J, et al. Among authors: pourova r. Clin Genet. 2016 Sep;90(3):230-7. doi: 10.1111/cge.12754. Epub 2016 Mar 8. Clin Genet. 2016. PMID: 26841933
Expanded DMPK repeats in dizygotic twins referred for diagnosis of autism versus absence of expanded DMPK repeats at screening of 330 children with autism.
Musova Z, Hancarova M, Havlovicova M, Pourova R, Hrdlicka M, Kraus J, Trkova M, Stejskal D, Sedlacek Z. Musova Z, et al. Among authors: pourova r. Neuropsychiatr Dis Treat. 2016 Sep 19;12:2367-2372. doi: 10.2147/NDT.S113917. eCollection 2016. Neuropsychiatr Dis Treat. 2016. PMID: 27695335 Free PMC article.
The Gen-Equip Project: evaluation and impact of genetics e-learning resources for primary care in six European languages.
Jackson L, O'Connor A, Paneque M, Curtisova V, Lunt PW, Pourova RK, Macek M Jr, Stefansdottir V, Turchetti D, Campos M, Henneman L, Godino L, Skirton H, Cornel MC. Jackson L, et al. Among authors: pourova rk. Genet Med. 2019 Mar;21(3):718-726. doi: 10.1038/s41436-018-0132-3. Epub 2018 Jul 27. Genet Med. 2019. PMID: 30050101 Free PMC article.
Co-designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom.
Costa A, Franková V, Robert G, Macek M, Patch C, Alexander E, Arellanesova A, Clayton-Smith J, Hunter A, Havlovicová M, Pourová R, Pritchard M, Roberts L, Zoubková V, Metcalfe A. Costa A, et al. Among authors: pourova r. J Community Genet. 2022 Jun;13(3):313-327. doi: 10.1007/s12687-022-00589-w. Epub 2022 May 6. J Community Genet. 2022. PMID: 35523996 Free PMC article.
Correction to: Co‑designing models for the communication of genomic results for rare diseases: a comparative study in the Czech Republic and the United Kingdom.
Costa A, Franková V, Robert G, Macek M, Patch C, Alexander E, Arellanesova A, Clayton-Smith J, Hunter A, Havlovicová M, Pourová R, Pritchard M, Roberts L, Zoubková V, Metcalfe A. Costa A, et al. Among authors: pourova r. J Community Genet. 2022 Jun;13(3):365-369. doi: 10.1007/s12687-022-00592-1. J Community Genet. 2022. PMID: 35773560 Free PMC article. No abstract available.
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