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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.
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.