Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Katarzyna Wołyńska"'
Autor:
Magdalena Badura-Stronka, Katarzyna Wołyńska, Anna Winczewska-Wiktor, Justyna Marcinkowska, Dagmara Karolewska, Danuta Tomkowiak-Kędzia, Michał Piechota, Marta Przyborska, Natalia Kochalska, Barbara Steinborn
Publikováno v:
Frontiers in Neurology, Vol 14 (2024)
IntroductionTargeted Next-Generation Sequencing Panels (TNGSP) have become a standard in global clinical practice. Instead of questioning the necessity of next-generation sequencing in epilepsy patients, contemporary large-scale research focuses on f
Externí odkaz:
https://doaj.org/article/b749998778ae45ea8e53617a95e6a662
Autor:
Adam Ustaszewski, Joanna Janowska-Głowacka, Katarzyna Wołyńska, Magdalena Badura-Stronka, Anna Pietrzak
Publikováno v:
Archives of Medical Science : AMS
Vascular malformations are present in a great variety of congenital syndromes, either as the predominant or additional feature. They pose a major challenge to the clinician: due to significant phenotype overlap, a precise diagnosis is often difficult
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f064792e2c006b6227a91e1fa5eacbb0
https://doi.org/10.5114/aoms.2020.93260
https://doi.org/10.5114/aoms.2020.93260
Autor:
Magdalena Badura-Stronka, Łukasz Kuszel, Agnieszka Wencel-Warot, Kamila Cudnoch, Katarzyna Wołyńska, Karolina Rutkowska, Barbara Steinborn, Rafał Płoski
Publikováno v:
Epilepsy Research. 190:107101
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::59a5d53f97b743e4c61b569315d829e0
https://doi.org/10.1016/j.eplepsyres.2023.107101
https://doi.org/10.1016/j.eplepsyres.2023.107101
Autor:
Robert Śmigiel, Tatiana Chilarska, Małgorzata Krajewska-Walasek, Anna Latos-Bielenska, Anna Kutkowska-Kaźmierczak, Marzena Wiśniewska, Krzysztof Szczałuba, Natalia Braun-Walicka, Aleksandra Jakubiak, Anna Jakubiuk-Tomaszuk, Jolanta Wierzba, Magdalena Badura-Stronka, Karolina Pesz, Monika Kugaudo, Ewa Obersztyn, Jennifer Castaneda, Katarzyna Wołyńska, Monika Bielecka, Jacek Pilch
Publikováno v:
Journal of Applied Genetics
Mowat-Wilson syndrome is a rare neurodevelopmental disorder caused by pathogenic variants in the ZEB2 gene, intragenic deletions of the ZEB2 gene, and microdeletions in the critical chromosomal region 2q22-23, where the ZEB2 gene is located. Mowat-Wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67fc340aa4534e82efbb5687681df121
https://doi.org/10.1007/s13353-021-00636-1
https://doi.org/10.1007/s13353-021-00636-1
Autor:
Katarzyna Wołyńska, Barbara Steinborn, Agnieszka Matheisel, Magdalena Badura-Stronka, Adam Sebastian Hirschfeld, Anna Winczewska-Wiktor, Anna Pietrzak, Katarzyna Bednarek-Rajewska, Tomasz Zemojtel, Monika Seget-Dubaniewicz, Anna Latos-Bielenska
Publikováno v:
Genes
Genes, Vol 12, Iss 956, p 956 (2021)
Volume 12
Issue 7
Genes, Vol 12, Iss 956, p 956 (2021)
Volume 12
Issue 7
CLN8 is a ubiquitously expressed membrane-spanning protein that localizes primarily in the ER, with partial localization in the ER-Golgi intermediate compartment. Mutations in CLN8 cause late-infantile neuronal ceroid lipofuscinosis (LINCL). We descr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34434529cfe7203873c22b57b1861661
https://doi.org/10.3390/genes12070956
https://doi.org/10.3390/genes12070956