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Next-generation sequencing in children with epilepsy: The importance of precise genotype-phenotype correlation.
Horák O, Burešová M, Kolář S, Španělová K, Jeřábková B, Gaillyová R, Česká K, Réblová K, Šoukalová J, Zídková J, Fajkusová L, Ošlejšková H, Rektor I, Danhofer P. Horák O, et al. Among authors: soukalova j. Epilepsy Behav. 2022 Mar;128:108564. doi: 10.1016/j.yebeh.2022.108564. Epub 2022 Jan 19. Epilepsy Behav. 2022. PMID: 35065395
Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene.
Mudry P, Slaby O, Neradil J, Soukalova J, Melicharkova K, Rohleder O, Jezova M, Seehofnerova A, Michu E, Veselska R, Sterba J. Mudry P, et al. Among authors: soukalova j. BMC Cancer. 2017 Feb 10;17(1):119. doi: 10.1186/s12885-017-3115-x. BMC Cancer. 2017. PMID: 28183292 Free PMC article.
[Identification of a Family with SUFU Germline Deletion Based on a Case of Desmoplastic Medulloblastoma in an Infant].
Šoukalová J, Vejmělková K, Cermanová T, Kašíková K, Mikulášová A, Janyšková H, Melichárková K, Pavelka Z, Ježová M, Pospíšilová Š, Kuglík P, Valášková I, Gaillyová R, Štěrba J, Zitterbart K. Šoukalová J, et al. Klin Onkol. 2016;29 Suppl 1:S83-8. doi: 10.14735/amko2016s83. Klin Onkol. 2016. PMID: 26691947 Czech.
Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement.
Formankova R, Kanderova V, Rackova M, Svaton M, Brdicka T, Riha P, Keslova P, Mejstrikova E, Zaliova M, Freiberger T, Grombirikova H, Zemanova Z, Vlkova M, Fencl F, Copova I, Bronsky J, Jabandziev P, Sedlacek P, Soukalova J, Zapletal O, Stary J, Trka J, Kalina T, Skvarova Kramarzova K, Hlavackova E, Litzman J, Fronkova E. Formankova R, et al. Among authors: soukalova j. Front Immunol. 2019 Sep 18;10:2194. doi: 10.3389/fimmu.2019.02194. eCollection 2019. Front Immunol. 2019. PMID: 31620126 Free PMC article.
DICER1 Syndrome.
Hořínová V, Drábová K, Nosková H, Bajčiová V, Šoukalová J, Černá L, Hůrková V, Slabý O, Štěrba J. Hořínová V, et al. Among authors: soukalova j. Klin Onkol. 2019 Summer;32(Supplementum2):123-127. doi: 10.14735/amko2019S123. Klin Onkol. 2019. PMID: 31409088 English.
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