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Epidemiology of rare diseases detected by newborn screening in the Czech Republic.
David J, Chrastina P, Pešková K, Kožich V, Friedecký D, Adam T, Hlídková E, Vinohradská H, Novotná D, Hedelová M, Al Taji E, Holubová A, Skalická V, Macek M, Gaillyová R, Votava F. David J, et al. Among authors: novotna d. Cent Eur J Public Health. 2019 Jun;27(2):153-159. doi: 10.21101/cejph.a5441. Cent Eur J Public Health. 2019. PMID: 31241292 Free article.
Lessons learned from 5 years of newborn screening for congenital adrenal hyperplasia in the Czech Republic: 17-hydroxyprogesterone, genotypes, and screening performance.
Votava F, Novotna D, Kracmar P, Vinohradska H, Stahlova-Hrabincova E, Vrzalova Z, Neumann D, Malikova J, Lebl J, Matern D. Votava F, et al. Among authors: novotna d. Eur J Pediatr. 2012 Jun;171(6):935-40. doi: 10.1007/s00431-011-1656-6. Epub 2012 Jan 11. Eur J Pediatr. 2012. PMID: 22234478 Clinical Trial.
A boy with developmental delay and mosaic supernumerary inv dup(5)(p15.33p15.1) leading to distal 5p tetrasomy - case report and review of the literature.
Tesner P, Drabova J, Stolfa M, Kudr M, Kyncl M, Moslerova V, Novotna D, Kremlikova Pourova R, Kocarek E, Rasplickova T, Sedlacek Z, Vlckova M. Tesner P, et al. Among authors: novotna d. Mol Cytogenet. 2018 May 9;11:29. doi: 10.1186/s13039-018-0377-1. eCollection 2018. Mol Cytogenet. 2018. PMID: 29760779 Free PMC article.
53 results