Anna Skorczyk-Werner

Affiliations
  • Department of Medical Genetics, Poznan University of Medical Sciences, 60-806 Poznan, Poland.
ORCID: 0000-0002-8847-1776

Publications (6)

International journal of molecular sciences
Avec: Anna Skorczyk-Werner , Katarzyna Tońska , Aleksandra Maciejczuk , Katarzyna Nowomiejska , Magdalena Korwin , Monika Ołdak , Anna Wawrocka , Maciej R Krawczyński

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

Diagnostics (Basel, Switzerland)
Avec: Anna Wawrocka , Magdalena Socha , Joanna Walczak-Sztulpa , Grzegorz Koczyk , Anna Skorczyk-Werner , Maciej R Krawczyński

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

Orphanet journal of rare diseases
Avec: Anna Skorczyk-Werner , Zuzanna Niedziela , Marcin Stopa , Maciej Robert Krawczyński

The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing.

Intractable & rare diseases research
Avec: Anna Skorczyk-Werner , Dorota Raczynska , Anna Wawrocka , Dinara Zholdybayeva , Nurgul Yakhiyayeva , Maciej Robert Krawczynski

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

Journal of applied genetics
Avec: Anna Skorczyk-Werner , Anna Sowińska-Seidler , Anna Wawrocka , Joanna Walczak-Sztulpa , Maciej Robert Krawczyński

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

International journal of molecular sciences
Avec: Anna Wawrocka , Joanna Walczak-Sztulpa , Lukasz Kuszel , Zuzanna Niedziela-Schwartz , Anna Skorczyk-Werner , Jadwiga Bernardczyk-Meller , Maciej R Krawczynski

Réseau de co-auteurs

Anna Wawrocka 5 collaborations
Joanna Walczak-Sztulpa 3 collaborations
Maciej R Krawczyński 2 collaborations
Maciej Robert Krawczyński 2 collaborations
Katarzyna Tońska 1 collaboration
Aleksandra Maciejczuk 1 collaboration
Katarzyna Nowomiejska 1 collaboration
Magdalena Korwin 1 collaboration
Monika Ołdak 1 collaboration
Magdalena Socha 1 collaboration
Grzegorz Koczyk 1 collaboration
Zuzanna Niedziela 1 collaboration
Marcin Stopa 1 collaboration
Dorota Raczynska 1 collaboration
Dinara Zholdybayeva 1 collaboration
Nurgul Yakhiyayeva 1 collaboration
Maciej Robert Krawczynski 1 collaboration
Anna Sowińska-Seidler 1 collaboration
Lukasz Kuszel 1 collaboration
Zuzanna Niedziela-Schwartz 1 collaboration
Jadwiga Bernardczyk-Meller 1 collaboration
Maciej R Krawczynski 1 collaboration