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Detection of Unknown and Rare Pathogenic Variants in Antithrombin, Protein C and Protein S Deficiency Using High-Throughput Targeted Sequencing.
Diagnostics (Basel). 2022 Apr 23;12(5):1060. doi: 10.3390/diagnostics12051060.
Diagnostics (Basel). 2022.
PMID: 35626216
Free PMC article.
Searching for genetic variants associated with thrombophilia.
Vrtěl P, Slavík L, Vodička R, Procházka M, Procházková J, Vrtěl R, Úlehlová J, Rohoň P, Štellmachová J.
Vrtěl P, et al.
Cas Lek Cesk. 2019 Spring;158(1):28-32.
Cas Lek Cesk. 2019.
PMID: 31046389
English.
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Haplotype analysis of the X chromosome in patients with Turner syndrome in order to verify the possible effect of imprinting on selected symptoms.
Vrtel P, Vrtel R, Klaskova E, Vrbicka D, Adamova K, Pavlicek J, Hana V, Hana V, Soucek O, Stara V, Lebl J, Snajdrova M, Zapletalova J, Furst T, Kapralova S, Tauber Z, Krejcirikova E, Routilova M, Stellmachova J, Vodicka R, Prochazka M.
Vrtel P, et al.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2022 Mar;166(1):63-67. doi: 10.5507/bp.2020.060. Epub 2021 Jan 12.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub. 2022.
PMID: 33463629
Free article.
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Ovarian tumors and genetic predisposition.
Štellmachová Júlia, Vrtěl Petr, Vrtěl Radek, Janíková Mária, Kolaříková Kristýna, Procházka Martin, Vodička Radek.
Štellmachová Júlia, et al. Among authors: vrtel petr.
Ceska Gynekol. 2022;87(3):211-216. doi: 10.48095/cccg2022211.
Ceska Gynekol. 2022.
PMID: 35896402
English.
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Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities.
Spurná Z, Čapková P, Punová L, DuchoslavovÁ J, Aleksijevic D, Venháčová P, Srovnal J, Štellmachová J, Curtisová V, Bitnerová V, Petřková J, Kolaříková K, Janíková M, Kratochvílová R, Vrtěl P, Vodička R, Vrtěl R, Zapletalová J.
Spurná Z, et al. Among authors: vrtel p.
Gene. 2024 Jan 20;892:147881. doi: 10.1016/j.gene.2023.147881. Epub 2023 Oct 6.
Gene. 2024.
PMID: 37806643
Free article.
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Karyotyping of Lymphocytes and Epithelial Cells of Distinct Embryonic Origin Does Not Help to Predict the Turner Syndrome Features.
Pavlicek J, Soucek O, Vrtel R, Klaskova E, Hana V, Stara V, Adamova K, Fürst T, Hana V Jr, Kapralova S, Prochazka M, Snajderova M, Tomaskova H, Tüdös Z, Vrbicka D, Vrtel P, Zapletalova J, Tauber Z, Lebl J.
Pavlicek J, et al. Among authors: vrtel p.
Horm Res Paediatr. 2022;95(5):465-475. doi: 10.1159/000525823. Epub 2022 Jul 1.
Horm Res Paediatr. 2022.
PMID: 35970147
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Aminoacylase 1 deficiency: case report on three affected siblings.
Smolka V, Friedecky D, Kolarova J, Tkacik O, Foltenova H, Bekarek V, Vrtel P, Srovnal J.
Smolka V, et al. Among authors: vrtel p.
AME Case Rep. 2023 Dec 11;8:18. doi: 10.21037/acr-23-46. eCollection 2024.
AME Case Rep. 2023.
PMID: 38234346
Free PMC article.
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