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A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome.
Platelets. 2018 Dec;29(8):827-833. doi: 10.1080/09537104.2018.1529300. Epub 2018 Oct 17.
Platelets. 2018.
PMID: 30332551
TP53 mutation analysis in clinical practice: lessons from chronic lymphocytic leukemia.
Malcikova J, Pavlova S, Kozubik KS, Pospisilova S.
Malcikova J, et al. Among authors: kozubik ks.
Hum Mutat. 2014 Jun;35(6):663-71. doi: 10.1002/humu.22508. Epub 2014 Feb 5.
Hum Mutat. 2014.
PMID: 24415659
Review.
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Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia.
Melazzini F, Palombo F, Balduini A, De Rocco D, Marconi C, Noris P, Gnan C, Pippucci T, Bozzi V, Faleschini M, Barozzi S, Doubek M, Di Buduo CA, Kozubik KS, Radova L, Loffredo G, Pospisilova S, Alfano C, Seri M, Balduini CL, Pecci A, Savoia A.
Melazzini F, et al. Among authors: kozubik ks.
Haematologica. 2016 Nov;101(11):1333-1342. doi: 10.3324/haematol.2016.147496. Epub 2016 Jun 30.
Haematologica. 2016.
PMID: 27365488
Free PMC article.
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Functional analysis of germline ETV6 W380R mutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia.
Kozubik KS, Radova L, Reblova K, Smida M, Zaliova Kubricanova M, Baloun J, Pesova M, Vrzalova Z, Folber F, Mejstrikova S, Pospisilova S, Doubek M.
Kozubik KS, et al.
Platelets. 2021 Aug 18;32(6):838-841. doi: 10.1080/09537104.2020.1802416. Epub 2020 Aug 21.
Platelets. 2021.
PMID: 32819174
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Germline variant of CTC1 gene in a patient with pulmonary fibrosis and myelodysplastic syndrome.
Doubková M, Vrzalová Z, Štefániková M, Červinek L, Kozubík KS, Blaháková I, Pospíšilová Š, Doubek M.
Doubková M, et al. Among authors: kozubik ks.
Multidiscip Respir Med. 2023 Jun 5;18(1):909. doi: 10.4081/mrm.2023.909. eCollection 2023 Jan 17.
Multidiscip Respir Med. 2023.
PMID: 37404458
Free PMC article.
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Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy.
Trizuljak J, Duben J, Blaháková I, Vrzalová Z, Kozubík KS, Štika J, Radová L, Bergerová V, Mejstříková S, Hořínová V, Jančálek R, Pospíšilová Š, Doubek M.
Trizuljak J, et al. Among authors: kozubik ks.
Mol Syndromol. 2023 Oct;14(5):439-448. doi: 10.1159/000528744. Epub 2023 Jun 2.
Mol Syndromol. 2023.
PMID: 37908896
Free PMC article.
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Ethical principles for the usage and sharing of genomic data from researc.
Franková V, Svozilová H, Stránecký V, Kozubík KS, Srovnal J, Benešová L, Uvírová M, Macek M, Pospíšilová Š.
Franková V, et al. Among authors: kozubik ks.
Cas Lek Cesk. 2023 Winter;161(7-8):271-275.
Cas Lek Cesk. 2023.
PMID: 36868836
English.
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