Joanna Walczak-Sztulpa

11PUBLICATIONS
15CO-AUTHORS
Vision sciencePeripheral nervous systemEpigenetics (incl. genome methylation and epigenomics)Infant and child healthAfrican languages
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (11)

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

|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

|Jul 25, 2022
WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.

Joanna Walczak-Sztulpa, Anna Wawrocka, Weronika Sikora

|Jan 09, 2021
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.

Joanna Walczak-Sztulpa, Anna Wawrocka, Małgorzata Stańczyk

|Nov 01, 2020
Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review.

Ewelina Bukowska-Olech, Anna Sowińska-Seidler, Filip Łojek

|Aug 18, 2020
Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.

Joanna Walczak-Sztulpa, Anna Wawrocka, Beata Leszczynska

Pageof 2

Frequent Collaborators

6 joint publications

Anna Wawrocka

3 joint publications

Ewelina Bukowska-Olech

2 joint publications

Aleksander Jamsheer

2 joint publications

Maciej R Krawczyński