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

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

por Bukowska-Olech, Ewelina, Sowińska-Seidler, Anna, Łojek, Filip, Popiel, Delfina, Walczak-Sztulpa, Joanna, Jamsheer, Aleksander
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

Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses

por Bukowska-Olech, Ewelina, Materna-Kiryluk, Anna, Walczak-Sztulpa, Joanna, Popiel, Delfina, Badura-Stronka, Magdalena, Koczyk, Grzegorz, Dawidziuk, Adam, Jamsheer, Aleksander
Publicado 2020

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

por Ryżko, Joanna, Walczak-Sztulpa, Joanna, Czubkowski, Piotr, Latos-Bieleńska, Anna, Kowalski, Adam, Stefanowicz, Marek, Jarmużek, Wioletta, Grenda, Ryszard, Pawłowska, Joanna
Publicado 2022

Compound heterozygous IFT140 variants in two Polish families with Sensenbrenner syndrome and early onset end-stage renal disease

por Walczak-Sztulpa, Joanna, Posmyk, Renata, Bukowska-Olech, Ewelina M., Wawrocka, Anna, Jamsheer, Aleksander, Oud, Machteld M., Schmidts, Miriam, Arts, Heleen H., Latos-Bielenska, Anna, Wasilewska, Anna
Publicado 2020

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

por Walczak-Sztulpa, Joanna, Wawrocka, Anna, Doornbos, Cenna, van Beek, Ronald, Sowińska-Seidler, Anna, Jamsheer, Aleksander, Bukowska-Olech, Ewelina, Latos-Bieleńska, Anna, Grenda, Ryszard, Bongers, Ernie M. H. F., Schmidts, Miriam, Obersztyn, Ewa, Krawczyński, Maciej R., Oud, Machteld M.
Publicado 2022