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A <italic>de novo</italic> loss‐of‐function <italic>DYNC1H1</italic> mutation in a patient with parkinsonian features and a favourable response to levodopa.
Published in:
2018
By:
- Szczałuba, K.;
- Rydzanicz, M.;
- Walczak, A.;
- Kosińska, J.;
- Jacoszek, A.;
- Biernacka, A.;
- Gasperowicz, P.;
- Płoski, R.;
- Szymańska, K.;
- Ciara, E.;
- Piekutowska‐Abramczuk, D.;
- Pronicka, E.;
- Czerska, K.;
- Laure‐Kamionowska, M.
Publication type:
Case Study
KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy.
Published in:
Clinical Genetics, 2017, v. 91, n. 5, p. 769, doi. 10.1111/cge.12831
By:
- Rydzanicz, M.;
- Jagła, M.;
- Kosinska, J.;
- Tomasik, T.;
- Sobczak, A.;
- Pollak, A.;
- Herman‐Sucharska, I.;
- Walczak, A.;
- Kwinta, P.;
- Płoski, R.
Publication type:
Article
Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.
Published in:
Clinical Genetics, 2017, v. 91, n. 1, p. 30, doi. 10.1111/cge.12792
By:
- 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.
Publication type:
Article
Novel c. 191C>G (p. Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
Published in:
Clinical Genetics, 2014, v. 85, n. 6, p. 573, doi. 10.1111/cge.12228
By:
- Piekutowska-Abramczuk, D.;
- Pronicki, M.;
- Strawa, K.;
- Karkucińska‐Więckowska, A.;
- Szymańska‐Dębińska, T.;
- Fidziańska, A.;
- Więckowski, M.R.;
- Jurkiewicz, D.;
- Ciara, E.;
- Jankowska, I.;
- Sykut‐Cegielska, J.;
- Krajewska‐Walasek, M.;
- Płoski, R.;
- Pronicka, E.
Publication type:
Article
Molecular and clinical consequences of novel mutations in the arylsulfatase A gene.
Published in:
Clinical Genetics, 2009, v. 75, n. 1, p. 57, doi. 10.1111/j.1399-0004.2008.01108.x
By:
- Ługowska, A.;
- Wlodarski, P.;
- Płoski, R.;
- Mierzewska, H.;
- Dudzińska, M.;
- Matheisel, A.;
- Świętochowska, H.;
- Tylki-Szymańska, A.
Publication type:
Article
DNA methylation in ELOVL2 and C1orf132 correctly predicted chronological age of individuals from three disease groups.
Published in:
International Journal of Legal Medicine, 2018, v. 132, n. 1, p. 1, doi. 10.1007/s00414-017-1636-0
By:
- Spólnicka, M.;
- Pośpiech, E.;
- Pepłońska, B.;
- Zbieć-Piekarska, R.;
- Makowska, Ż.;
- Pięta, A.;
- Karłowska-Pik, J.;
- Ziemkiewicz, B.;
- Wężyk, M.;
- Gasperowicz, P.;
- Bednarczuk, T.;
- Barcikowska, M.;
- Żekanowski, C.;
- Płoski, R.;
- Branicki, Wojciech
Publication type:
Article
IDENTIFYING NEW PATHOGENIC GENETIC FACTORS OF SEX DEVELOPMENT DISORDERS USING WHOLE-EXOME SEQUENCING.
Published in:
Ukrainian Biochemical Journal, 2018, v. 90, p. 66
By:
- KOZYRIEVA, K. O.;
- VITRENKO, Y. O.;
- LAMTEVA, V. Y.;
- GORODNA, O. V.;
- PŁOSKI, R.;
- LIVSHITS, L. A.
Publication type:
Article
Differential association of juvenile and adult systemic lupus erythematosus with genetic variants of oestrogen receptors alpha and beta.
Published in:
Lupus, 2011, v. 20, n. 1, p. 85, doi. 10.1177/0961203310381514
By:
- Kisiel, B. M.;
- Kosińska, J.;
- Wierzbowska, M.;
- Rutkowska-Sak, L.;
- Musiej-Nowakowska, E.;
- Wudarski, M.;
- Olesinska, M.;
- Krajewski, P.;
- Łącki, J.;
- Rell-Bakalarska, M.;
- Jagodziński, P. P.;
- Tłustochowicz, W.;
- Płoski, R.
Publication type:
Article
Endoplasmic reticulum aminopeptidase 1 polymorphism Ile276Met is associated with atopic dermatitis and affects the generation of an HLA‐C associated antigenic epitope in vitro.
Published in:
Journal of the European Academy of Dermatology & Venereology, 2019, v. 33, n. 5, p. 906, doi. 10.1111/jdv.15449
By:
- Niepiekło‐Miniewska, W.;
- Mpakali, A.;
- Stratikos, E.;
- Matusiak, Ł.;
- Narbutt, J.;
- Lesiak, A.;
- Kuna, P.;
- Wilczyńska, K.;
- Nowak, I.;
- Wiśniewski, A.;
- Zwolińska, K.;
- Ponińska, J.;
- Płoski, R.;
- Szepietowski, J.C.;
- Kuśnierczyk, P.
Publication type:
Article
Hepatitis C virus 5′ untranslated region variability correlates with treatment outcome.
Published in:
Journal of Viral Hepatitis, 2014, v. 21, n. 8, p. 551, doi. 10.1111/jvh.12182
By:
- Bukowska‐Ośko, I.;
- Radkowski, M.;
- Pawełczyk, A.;
- Rosinska, M.;
- Caraballo Cortés, K.;
- Płoski, R.;
- Berak, H.;
- Horban, A.;
- Stanczak, J.;
- Fic, M.;
- Laskus, T.
Publication type:
Article

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