Anna Skorczyk-Werner

8PUBLICATIONS
14CO-AUTHORS
Vision sciencePaediatrics not elsewhere classifiedOphthalmologyPeripheral nervous systemGene mapping
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Publications (8)

|Jun 12, 2026
Genetic and Clinical Heterogeneity of Polish Patients with Congenital Stationary Night Blindness (CSNB).

|May 13, 2026
The Role of Genetic Testing in the Differential Diagnosis of Pustular Dermatoses: A Pediatric Case of Generalized Pustular Psoriasis Associated with the IL36RN Variant.

|Jun 19, 2024
Coexistence of Retinitis Pigmentosa and Ataxia in Patients with PHARC, PCARP, and Oliver-McFarlane Syndromes.

Anna Wawrocka, Joanna Walczak-Sztulpa, Lukasz Kuszel

|Dec 23, 2023
DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.

Anna Skorczyk-Werner, Katarzyna Tońska, Aleksandra Maciejczuk

|Feb 25, 2023
Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa.

Anna Wawrocka, Magdalena Socha, Joanna Walczak-Sztulpa

|Nov 12, 2022
Molecular background of Leber congenital amaurosis in a Polish cohort of patients-novel variants discovered by NGS.

Anna Skorczyk-Werner, Anna Sowińska-Seidler, Anna Wawrocka

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Frequent Collaborators

4 joint publications

Maciej R Krawczyński

2 joint publications

Joanna Walczak-Sztulpa

2 joint publications

Anna Wawrocka

2 joint publications

Lukasz Kuszel