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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.
A founder COL4A4 pathogenic variant resulting in autosomal recessive Alport syndrome accounts for most genetic kidney failure in Romani people.
Plevova P, Indrakova J, Savige J, Kuhnova P, Tvrda P, Cerna D, Hilscherova S, Kudrejova M, Polendova D, Jaklova R, Langova M, Jahnova H, Lastuvkova J, Dusek J, Gut J, Vlckova M, Solarova P, Kreckova G, Kantorova E, Soukalova J, Slavkovsky R, Zapletalova J, Tichy T, Thomasova D. Plevova P, et al. Among authors: soukalova j. Front Med (Lausanne). 2023 Feb 8;10:1096869. doi: 10.3389/fmed.2023.1096869. eCollection 2023. Front Med (Lausanne). 2023. PMID: 36844206 Free PMC article.
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.
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J, Kramářová T, Kopčilová J, Réblová K, Haberlová J, Mazanec R, Voháňka S, Gřegořová A, Langová M, Honzík T, Šoukalová J, Ošlejšková H, Solařová P, Vyhnálková E, Fajkusová L. Zídková J, et al. Among authors: soukalova j. Clin Genet. 2023 Nov;104(5):542-553. doi: 10.1111/cge.14407. Epub 2023 Aug 1. Clin Genet. 2023. PMID: 37526466
[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.
13 results