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Page 1
Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants.
Epilepsy Res. 2023 Feb;190:107101. doi: 10.1016/j.eplepsyres.2023.107101. Epub 2023 Feb 1.
Epilepsy Res. 2023.
PMID: 36758444
Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome.
Jakubiak A, Szczałuba K, Badura-Stronka M, Kutkowska-Kaźmierczak A, Jakubiuk-Tomaszuk A, Chilarska T, Pilch J, Braun-Walicka N, Castaneda J, Wołyńska K, Wiśniewska M, Kugaudo M, Bielecka M, Pesz K, Wierzba J, Latos-Bieleńska A, Obersztyn E, Krajewska-Walasek M, Śmigiel R.
Jakubiak A, et al. Among authors: wolynska k.
J Appl Genet. 2021 Sep;62(3):477-485. doi: 10.1007/s13353-021-00636-1. Epub 2021 May 12.
J Appl Genet. 2021.
PMID: 33982229
Free PMC article.
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Genetic syndromes with vascular malformations - update on molecular background and diagnostics.
Ustaszewski A, Janowska-Głowacka J, Wołyńska K, Pietrzak A, Badura-Stronka M.
Ustaszewski A, et al. Among authors: wolynska k.
Arch Med Sci. 2020 Feb 25;17(4):965-991. doi: 10.5114/aoms.2020.93260. eCollection 2021.
Arch Med Sci. 2020.
PMID: 34336026
Free PMC article.
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A patient-based model of RNA mis-splicing uncovers treatment targets in Parkinson's disease.
Boussaad I, Obermaier CD, Hanss Z, Bobbili DR, Bolognin S, Glaab E, Wołyńska K, Weisschuh N, De Conti L, May C, Giesert F, Grossmann D, Lambert A, Kirchen S, Biryukov M, Burbulla LF, Massart F, Bohler J, Cruciani G, Schmid B, Kurz-Drexler A, May P, Duga S, Klein C, Schwamborn JC, Marcus K, Woitalla D, Vogt Weisenhorn DM, Wurst W, Baralle M, Krainc D, Gasser T, Wissinger B, Krüger R.
Boussaad I, et al. Among authors: wolynska k.
Sci Transl Med. 2020 Sep 9;12(560):eaau3960. doi: 10.1126/scitranslmed.aau3960.
Sci Transl Med. 2020.
PMID: 32908004
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CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report.
Badura-Stronka M, Winczewska-Wiktor A, Pietrzak A, Hirschfeld AS, Zemojtel T, Wołyńska K, Bednarek-Rajewska K, Seget-Dubaniewicz M, Matheisel A, Latos-Bielenska A, Steinborn B.
Badura-Stronka M, et al. Among authors: wolynska k.
Genes (Basel). 2021 Jun 23;12(7):956. doi: 10.3390/genes12070956.
Genes (Basel). 2021.
PMID: 34201538
Free PMC article.
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Validation of targeted next-generation sequencing panels in a cohort of Polish patients with epilepsy: assessing variable performance across clinical endophenotypes and uncovering novel genetic variants.
Badura-Stronka M, Wołyńska K, Winczewska-Wiktor A, Marcinkowska J, Karolewska D, Tomkowiak-Kędzia D, Piechota M, Przyborska M, Kochalska N, Steinborn B.
Badura-Stronka M, et al. Among authors: wolynska k.
Front Neurol. 2024 Jan 12;14:1316933. doi: 10.3389/fneur.2023.1316933. eCollection 2023.
Front Neurol. 2024.
PMID: 38328757
Free PMC article.
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