Joanna Sztulpa-Walczak

Rokietnicka 8 Street
Poznan, WP 60608, Poland

Last Updated: 09/26/2026

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Found 22 publications

Genetic and Clinical Heterogeneity of Polish Patients with Congenital Stationary Night Blindness (CSNB).

Genetic and Clinical Heterogeneity of Polish Patients with Congenital Stationary Night Blindness (CSNB).

Journal: International journal of molecular sciences

Published: April 17, 2026

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

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

Journal: International journal of molecular sciences

Published: April 09, 2024

Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants.

Ciliary phenotyping in renal epithelial cells in a cranioectodermal dysplasia patient with WDR35 variants.

Journal: Frontiers in molecular biosciences

Published: August 30, 2023

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

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

Journal: Diagnostics (Basel, Switzerland)

Published: January 16, 2023

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

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

Journal: Journal of applied genetics

Published: August 01, 2022

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.

Identical IFT140 Variants Cause Variable Skeletal Ciliopathy Phenotypes-Challenges for the Accurate Diagnosis.

Journal: Frontiers in genetics

Published: April 29, 2022

WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.

WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.

Journal: American journal of medical genetics. Part A

Published: February 16, 2022

Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia).

Case Report: Sequential Liver After Kidney Transplantation in a Patient With Sensenbrenner Syndrome (Cranioectodermal Dysplasia).

Journal: Frontiers in pediatrics

Published: December 12, 2021

Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia.

Homozygous microdeletion in the 11p13 region in the patient with isolated form of aniridia: New challenges in the genetic diagnostics of aniridia.

Journal: American journal of medical genetics. Part A

Published: June 22, 2021

Correction to: Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review.

Correction to: Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review.

Journal: Journal of applied genetics

Published: November 12, 2020

Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.

Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.

Journal: American journal of medical genetics. Part A

Published: September 23, 2020

Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review.

Further phenotypic delineation of the auriculocondylar syndrome type 2 with literature review.

Journal: Journal of applied genetics

Published: August 16, 2020

Showing 1-12 of 22

Last Updated: 09/26/2026