Search Results - "Wołyńska, Katarzyna"

Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants by Badura-Stronka, Magdalena, Kuszel, Łukasz, Wencel-Warot, Agnieszka, Cudnoch, Kamila, Wołyńska, Katarzyna, Rutkowska, Karolina, Steinborn, Barbara, Płoski, Rafał

“…Missense variants in the synaptic vesicle glycoprotein SV2A gene have been previously found in a few individuals with epilepsy. Adverse reaction to…”
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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 by Badura-Stronka, Magdalena, Wołyńska, Katarzyna, Winczewska-Wiktor, Anna, Marcinkowska, Justyna, Karolewska, Dagmara, Tomkowiak-Kędzia, Danuta, Piechota, Michał, Przyborska, Marta, Kochalska, Natalia, Steinborn, Barbara

“…Targeted Next-Generation Sequencing Panels (TNGSP) have become a standard in global clinical practice. Instead of questioning the necessity of next-generation…”
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Genetic syndromes with vascular malformations – update on molecular background and diagnostics by Ustaszewski, Adam, Janowska-Głowacka, Joanna, Wołyńska, Katarzyna, Pietrzak, Anna, Badura-Stronka, Magdalena

“…Vascular malformations are present in a great variety of congenital syndromes, either as the predominant or additional feature. They pose a major challenge to…”
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Clinical characteristics of Polish patients with molecularly confirmed Mowat-Wilson syndrome by Jakubiak, Aleksandra, Szczałuba, Krzysztof, Badura-Stronka, Magdalena, Kutkowska-Kaźmierczak, Anna, Jakubiuk-Tomaszuk, Anna, Chilarska, Tatiana, Pilch, Jacek, Braun-Walicka, Natalia, Castaneda, Jennifer, Wołyńska, Katarzyna, Wiśniewska, Marzena, Kugaudo, Monika, Bielecka, Monika, Pesz, Karolina, Wierzba, Jolanta, Latos-Bieleńska, Anna, Obersztyn, Ewa, Krajewska-Walasek, Małgorzata, Śmigiel, Robert

“…Mowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the ZEB2 gene, intragenic deletions of the ZEB2 gene, and…”
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CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis-Literature Review and Case Report by Badura-Stronka, Magdalena, Winczewska-Wiktor, Anna, Pietrzak, Anna, Hirschfeld, Adam Sebastian, Zemojtel, Tomasz, Wołyńska, Katarzyna, Bednarek-Rajewska, Katarzyna, Seget-Dubaniewicz, Monika, Matheisel, Agnieszka, Latos-Bielenska, Anna, Steinborn, Barbara

“…CLN8 is a ubiquitously expressed membrane-spanning protein that localizes primarily in the ER, with partial localization in the ER-Golgi intermediate…”
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