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

The Seroprevalence of Toxoplasma gondii in Wild Boars from Three Voivodeships in Poland, MAT Analyses

por Kornacka, Aleksandra, Moskwa, Bożena, Werner, Anna, Nowosad, Piotr, Jankowska, Wiesława, Cybulska, Aleksandra, Majewska, Anna C.
Publicado 2020

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

Azidobupramine, an Antidepressant-Derived Bifunctional Neurotransmitter Transporter Ligand Allowing Covalent Labeling and Attachment of Fluorophores

por Kirmeier, Thomas, Gopalakrishnan, Ranganath, Gormanns, Vanessa, Werner, Anna M., Cuboni, Serena, Rudolf, Georg C., Höfner, Georg, Wanner, Klaus T., Sieber, Stephan A., Schmidt, Ulrike, Holsboer, Florian, Rein, Theo, Hausch, Felix
Publicado 2016