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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.
Mol Syndromol. 2023 Oct;14(5):439-448. doi: 10.1159/000528744. Epub 2023 Jun 2.
Mol Syndromol. 2023.
PMID: 37908896
Free PMC article.
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. Among authors: mejstrikova s.
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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