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Author/Creator Pienkowski, Victor Murcia

1. A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene. Issue 3 (8th January 2019)

Authors:
Krygier, Magdalena; Kwarciany, Mariusz; Wasilewska, Krystyna; Pienkowski, Victor Murcia; Krawczyńska, Natalia; Zielonka, Daniel; Kosińska, Joanna; Stawinski, Piotr; Rudzińska‐Bar, Monika; Boczarska‐Jedynak, Magdalena; Karaszewski, Bartosz; Limon, Janusz; Sławek, Jarosław; Płoski, Rafał; Rydzanicz...
Journal:
Clinical genetics
Issue:
Volume 95:Issue 3(2019)
Page Start:
415
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. TADeus2: a web server facilitating the clinical diagnosis by pathogenicity assessment of structural variations disarranging 3D chromatin structure. Issue Volume 50:Issue W1(2022) (7th May 2022)

Authors:
Poszewiecka, Barbara; Pienkowski, Victor Murcia; Nowosad, Karol; Robin, Jérôme D; Gogolewski, Krzysztof; Gambin, Anna
Journal:
Nucleic acids research
Issue:
Volume 50:Issue W1(2022)
Page Start:
W744
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

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