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Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.
Liu Z, Xin B, Smith IN, Sency V, Szekely J, Alkelai A, Shuldiner A, Efthymiou S, Rajabi F, Coury S, Brownstein CA, Rudnik-Schöneborn S, Bruel AL, Thevenon J, Zeidler S, Jayakar P, Schmidt A, Cremer K, Engels H, Peters SO, Zaki MS, Duan R, Zhu C, Xu Y, Gao C, Sepulveda-Morales T, Maroofian R, Alkhawaja IA, Khawaja M, Alhalasah H, Houlden H, Madden JA, Turchetti V, Marafi D, Agrawal PB, Schatz U, Rotenberg A, Rotenberg J, Mancini GMS, Bakhtiari S, Kruer M, Thiffault I, Hirsch S, Hempel M, Stühn LG, Haack TB, Posey JE, Lupski JR, Lee H, Sarn NB, Eng C, Gonzaga-Jauregui C, Zhang B, Wang H. Liu Z, et al. Among authors: szekely j. Hum Mol Genet. 2023 Oct 4;32(20):2981-2995. doi: 10.1093/hmg/ddad124. Hum Mol Genet. 2023. PMID: 37531237 Free PMC article.
Application of comprehensive molecular genetic profiling in precision cancer medicine, Hungarian experiences.
Tóth E, Kürönya Z, Soós E, Pintér T, Butz H, Horváth Z, Csernák E, Grolmusz VK, Székely J, Straussz T, Lövey J, Jánvári L, Báthory-Fülöp L, Nagy P, Polgár C, Patócs A. Tóth E, et al. Among authors: szekely j. Acta Oncol. 2024 Jun 16;63:433-440. doi: 10.2340/1651-226X.2024.39918. Acta Oncol. 2024. PMID: 38881341 Free PMC article.
Development of an Antigen Capture Lateral Flow Immunoassay for the Detection of Burkholderia pseudomallei.
Nualnoi T, Wongwitwichot P, Kaewmanee S, Chanchay P, Wongpanti N, Ueangsuwan T, Siangsanor R, Chotirouangnapa W, Saechin T, Thungtin S, Szekely J, Wattanachant C, Saechan V. Nualnoi T, et al. Among authors: szekely j. Diagnostics (Basel). 2024 May 16;14(10):1033. doi: 10.3390/diagnostics14101033. Diagnostics (Basel). 2024. PMID: 38786331 Free PMC article.
Alignment Thresholds of Molecules.
Szekely JE, Seideman T. Szekely JE, et al. Phys Rev Lett. 2022 Oct 28;129(18):183201. doi: 10.1103/PhysRevLett.129.183201. Phys Rev Lett. 2022. PMID: 36374678
283 results