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Author/Creator Krygier, Magdalena

1. A novel de novo mutation p.Ala428Asp in KRT5 gene as a cause of localized epidermolysis bullosa simplex. Issue 10 (20th May 2019)

Authors:
Stawczyk‐Macieja, Marta; Wertheim‐Tysarowska, Katarzyna; Jakubowski, Rafał; Szczerkowska‐Dobosz, Aneta; Krygier, Magdalena; Wilkowska, Aleksandra; Sawicka, Justyna; Nowak, Wiesław; Bal, Jerzy; Nowicki, Roman
Other Names:
Bauer Johann W. guestEditor.; Bodemer Christine guestEditor.; Schmuth Matthias guestEditor.
Journal:
Experimental dermatology
Issue:
Volume 28:Issue 10(2019)
Page Start:
1131
Record Type:
Journal Article
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2. 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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3. B26 Differential mitochondrial DNA levels in HD patients depending on the cell type. (13th September 2016)

Authors:
Baranska, Sylwia; Jędrak, Paulina; Krygier, Magdalena; Tońska, Katarzyna; Drozd, Małgorzata; Bartnik, Ewa; Sołtan, Witold; Sitek, Emilia J; Stanisławska-Sachadyn, Anna; Limon, Janusz; Sławek, Jarosław; Węgrzyn, Grzegorz
Journal:
Journal of neurology, neurosurgery and psychiatry
Issue:
Volume 87(2016)Supplement 1
Page Start:
A18
Record Type:
Journal Article
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4. De novo truncating NOVA2 variants affect alternative splicing and lead to heterogeneous neurodevelopmental phenotypes. Issue 9 (8th June 2022)

Authors:
Scala, Marcello; Drouot, Nathalie; MacLennan, Suzanna C.; Wessels, Marja W.; Krygier, Magdalena; Pavinato, Lisa; Telegrafi, Aida; de Man, Stella A.; van Slegtenhorst, Marjon; Iacomino, Michele; Madia, Francesca; Scudieri, Paolo; Uva, Paolo; Giacomini, Thea; Nobile, Giulia; Mancardi, Maria Margher...
Journal:
Human mutation
Issue:
Volume 43:Issue 9(2022)
Page Start:
1299
Record Type:
Journal Article
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5. Expanding the phenotype of DNAJC30‐associated Leigh syndrome. Issue 5 (29th July 2022)

Authors:
Zawadzka, Marta; Krygier, Magdalena; Pawłowicz, Małgorzata; Wilke, Matheus Vernet Machado Bressan; Rutkowska, Karolina; Gueguen, Naig; Desquiret‐Dumas, Valerie; Klee, Eric W.; Schimmenti, Lisa A.; Sławek, Jarosław; Procaccio, Vincent; Płoski, Rafał; Mazurkiewicz‐Bełdzińska, Maria
Journal:
Clinical genetics
Issue:
Volume 102:Issue 5(2022)
Page Start:
438
Record Type:
Journal Article
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