Authors’ response to Dr Finsterer's comment “Exclude differentials before diagnosing SARS-CoV-2-associated acute hemorrhagic necrotizing encephalitis” (THEIJID-D-22-00008)

Por Magdalena Mierzewska-Schmidt, Artur Baranowski, Krystyna Szymanska, Michal Ciaston, Ernest Kuchar, Rafal Ploski, Joanna Kosinska, Izabela Pagowska-Klimek
Publicado em 2022-05-01

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy – a case report and review of...

Por Agnieszka A. Koppolu, Agnieszka Madej-Pilarczyk, Małgorzata Rydzanicz, Joanna Kosińska, Piotr Gasperowicz, Jolanta Dorszewska, Wojciech Kozubski, Barbara Steinborn, Andrzej M. Kochański, Rafał Płoski
Publicado em 2017-09-01

A Novel Monoallelic Nonsense Mutation in the NFKB2 Gene Does Not Cause a Clinical Manifestation

Por Jerzy Kotlinowski, Karolina Bukowska-Strakova, Agnieszka Koppolu, Agnieszka Koppolu, Joanna Kosińska, Natalia Pydyn, Piotr Stawinski, Mateusz Wilamowski, Witold Nowak, Alicja Józkowicz, Jarosław Baran, Rafał Płoski, Jolanta Jura
Publicado em 2019-02-01