Anna Skorczyk-Werner

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 11

Top Venues

International journal of molecular sciences

Diagnostics (Basel, Switzerland)

Orphanet journal of rare diseases

Journal of applied genetics

Poznan University of Medical Sciences

Poznań University of Life Sciences (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Poznan University of Medical Sciences Dec 16 2009

Poland

PhD :: Department of Medical Genetics

Education History

Poznań University of Life Sciences

Poland

PHD

Publications

Anna Wawrocka, Joanna Walczak-Sztulpa, Łukasz Kuszel, Zuzanna Niedziela-Schwartz, Anna Skorczyk-Werner, Jadwiga Bernardczyk-Meller, Maciej R Krawczynski
Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes. International journal of molecular sciences 25 (11) (2024)
Anna Wawrocka, Joanna Walczak-Sztulpa, Łukasz Kuszel, Zuzanna Niedziela-Schwartz, Anna Skorczyk-Werner, Jadwiga Bernardczyk-Meller, Maciej R Krawczynski
Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes. International journal of molecular sciences 25 (11) (2024)
Anna Skorczyk-Werner, Katarzyna Tońska, Aleksandra Maciejczuk, Katarzyna Nowomiejska, Magdalena Korwin, Monika Ołdak, Anna Wawrocka, Maciej R Krawczynski
DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients. International journal of molecular sciences 24 (24) (2023)
Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa, Grzegorz Koczyk, Anna Skorczyk-Werner, Maciej R Krawczynski
Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa. Diagnostics (Basel, Switzerland) 13 (4) (2023)
Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa, Grzegorz Koczyk, Anna Skorczyk-Werner, Maciej R Krawczynski
Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa. Diagnostics (Basel, Switzerland) 13 (4) (2023)
Anna Skorczyk-Werner, Katarzyna Tońska, Aleksandra Maciejczuk, Katarzyna Nowomiejska, Magdalena Korwin, Monika Ołdak, Anna Wawrocka, Maciej R Krawczynski
DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients. International journal of molecular sciences 24 (24) (2023)
Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa, Grzegorz Koczyk, Anna Skorczyk-Werner, Maciej R Krawczynski
Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa. Diagnostics (Basel, Switzerland) 13 (4) (2023)
Anna Skorczyk-Werner, Katarzyna Tońska, Aleksandra Maciejczuk, Katarzyna Nowomiejska, Magdalena Korwin, Monika Ołdak, Anna Wawrocka, Maciej R Krawczynski
DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients. International journal of molecular sciences 24 (24) (2023)
Anna Skorczyk-Werner, Anna Sowińska-Seidler, Anna Wawrocka, Joanna Walczak-Sztulpa, Maciej Robert Krawczyński
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS. Journal of applied genetics (2022)
Anna Skorczyk-Werner, Zuzanna Niedziela, Marcin Stopa, Maciej Robert Krawczyński
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA). Orphanet journal of rare diseases 15 (1) (2020)
Anna Skorczyk-Werner, Anna Wawrocka, Natalia Kochalska, Maciej Robert Krawczynski
Novel CHM mutations in Polish patients with choroideremia - an orphan disease with close perspective of treatment. Orphanet journal of rare diseases 13 (1) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

Anna Skorczyk-Werner