Novel CHM mutations in Polish patients with choroideremia – an orphan disease with close perspective of treatment

por Skorczyk-Werner, Anna, Wawrocka, Anna, Kochalska, Natalia, Krawczynski, Maciej Robert
Publicado 2018

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)

por Skorczyk-Werner, Anna, Niedziela, Zuzanna, Stopa, Marcin, Krawczyński, Maciej Robert
Publicado 2020

Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS

por Skorczyk-Werner, Anna, Sowińska-Seidler, Anna, Wawrocka, Anna, Walczak-Sztulpa, Joanna, Krawczyński, Maciej Robert
Publicado 2022

Molecular Re-Diagnosis with Whole-Exome Sequencing Increases the Diagnostic Yield in Patients with Non-Syndromic Retinitis Pigmentosa

por Wawrocka, Anna, Socha, Magdalena, Walczak-Sztulpa, Joanna, Koczyk, Grzegorz, Skorczyk-Werner, Anna, Krawczyński, Maciej R.
Publicado 2023

Five novel CNGB3 gene mutations in Polish patients with achromatopsia

por Wawrocka, Anna, Kohl, Susanne, Baumann, Britta, Walczak-Sztulpa, Joanna, Wicher, Katarzyna, Skorczyk-Werner, Anna, Krawczynski, Maciej R.
Publicado 2014

Fundus albipunctatus: review of the literature and report of a novel RDH5 gene mutation affecting the invariant tyrosine (p.Tyr175Phe)

por Skorczyk-Werner, Anna, Pawłowski, Przemysław, Michalczuk, Marta, Warowicka, Alicja, Wawrocka, Anna, Wicher, Katarzyna, Bakunowicz-Łazarczyk, Alina, Krawczyński, Maciej R.
Publicado 2015

Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development

por Kolesinska, Zofia, Acierno Jr, James, Ahmed, S Faisal, Xu, Cheng, Kapczuk, Karina, Skorczyk-Werner, Anna, Mikos, Hanna, Rojek, Aleksandra, Massouras, Andreas, Krawczynski, Maciej R, Pitteloud, Nelly, Niedziela, Marek
Publicado 2018

Novel variants identified with next-generation sequencing in Polish patients with cone-rod dystrophy

por Wawrocka, Anna, Skorczyk-Werner, Anna, Wicher, Katarzyna, Niedziela, Zuzanna, Ploski, Rafal, Rydzanicz, Malgorzata, Sykulski, Maciej, Kociecki, Jaroslaw, Weisschuh, Nicole, Kohl, Susanne, Biskup, Saskia, Wissinger, Bernd, Krawczynski, Maciej R.
Publicado 2018