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Author/Creator Rydzanicz, M.

1. A de novo loss‐of‐function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa. Issue 5 (15th December 2017)

Authors:
Szczałuba, K.; Szymańska, K.; Rydzanicz, M.; Ciara, E.; Walczak, A.; Piekutowska‐Abramczuk, D.; Kosińska, J.; Jacoszek, A.; Czerska, K.; Biernacka, A.; Laure‐Kamionowska, M.; Gasperowicz, P.; Pronicka, E.; Płoski, R.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 5(2018)
Page Start:
1107
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

5. Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations. Issue 1 (December 2016)

Authors:
Poninska, J.; Bilinska, Z.; Franaszczyk, M.; Michalak, E.; Rydzanicz, M.; Szpakowski, E.; Pollak, A.; Milanowska, B.; Truszkowska, G.; Chmielewski, P.; Sioma, A.; Janaszek-Sitkowska, H.; Klisiewicz, A.; Michalowska, I.; Makowiecka-Ciesla, M.; Kolsut, P.; Stawinski, P.; Foss-Nieradko, B.; Szperl, ...
Journal:
Journal of translational medicine
Issue:
Volume 14:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation – a novel phenotype of the mitochondrial disease. Issue 1 (2nd June 2016)

Authors:
Mierzewska, H.; Rydzanicz, M.; Biegański, T.; Kosinska, J.; Mierzewska‐Schmidt, M.; Ługowska, A.; Pollak, A.; Stawiński, P.; Walczak, A.; Kędra, A.; Obersztyn, E.; Szczepanik, E.; Płoski, R.
Journal:
Clinical genetics
Issue:
Volume 91:Issue 1(2017)
Page Start:
30
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗