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The Human Phenotype Ontology in 2024: phenotypes around the world.
Nucleic Acids Res. 2024 Jan 5;52(D1):D1333-D1346. doi: 10.1093/nar/gkad1005.
Nucleic Acids Res. 2024.
PMID: 37953324
Free PMC article.
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.
Mol Cytogenet. 2018 May 9;11:29. doi: 10.1186/s13039-018-0377-1. eCollection 2018.
Mol Cytogenet. 2018.
PMID: 29760779
Free PMC article.
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Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood.
Muravyev A, Vershinina T, Tesner P, Sjoberg G, Fomicheva Y, Čajbiková NN, Kozyreva A, Zhuk S, Mamaeva E, Tarnovskaya S, Jornholt J, Sokolnikova P, Pervunina T, Vasichkina E, Sejersen T, Kostareva A.
Muravyev A, et al. Among authors: tesner p.
Orphanet J Rare Dis. 2022 Sep 14;17(1):358. doi: 10.1186/s13023-022-02477-5.
Orphanet J Rare Dis. 2022.
PMID: 36104822
Free PMC article.
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Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers.
Tesner P, Vlckova M, Drabova J, Vseticka J, Klimova A, Lastuvkova J, Zidovska J, Kremlikova Pourova R, Hancarova M, Sedlacek Z, Kocarek E.
Tesner P, et al.
Cytogenet Genome Res. 2018;154(4):187-195. doi: 10.1159/000488790. Epub 2018 May 9.
Cytogenet Genome Res. 2018.
PMID: 29739006
Free article.
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Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.
Straka B, Hermanovska B, Krskova L, Zamecnik J, Vlckova M, Balascakova M, Tesner P, Jezdik P, Tichy M, Kyncl M, Musilova A, Lassuthova P, Marusic P, Krsek P.
Straka B, et al. Among authors: tesner p.
Neurol Genet. 2022 Sep 27;8(5):e200032. doi: 10.1212/NXG.0000000000200032. eCollection 2022 Oct.
Neurol Genet. 2022.
PMID: 36324633
Free PMC article.
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Genetic testing in children enrolled in epilepsy surgery program. A real-life study.
Straka B, Splitkova B, Vlckova M, Tesner P, Rezacova H, Krskova L, Koblizek M, Kyncl M, Maulisova A, Bukacova K, Uhrova-Meszarosova A, Musilova A, Kudr M, Ebel M, Belohlavkova A, Jahodova A, Liby P, Tichy M, Jezdik P, Zamecnik J, Aronica E, Krsek P.
Straka B, et al. Among authors: tesner p.
Eur J Paediatr Neurol. 2023 Nov;47:80-87. doi: 10.1016/j.ejpn.2023.09.009. Epub 2023 Oct 5.
Eur J Paediatr Neurol. 2023.
PMID: 37812946
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Importance of the integrated test in the Down's syndrome screening algorithm.
Springer D, Loucky J, Tesner P, Cutka D, Stejskal D, Gregor V, Zima T.
Springer D, et al. Among authors: tesner p.
J Med Screen. 2018 Sep;25(3):114-118. doi: 10.1177/0969141317752533. Epub 2018 Mar 25.
J Med Screen. 2018.
PMID: 29575979
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