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Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.
Genes (Basel). 2021 Dec 18;12(12):2014. doi: 10.3390/genes12122014.
Genes (Basel). 2021.
PMID: 34946966
Free PMC article.
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: karolewska d.
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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