Anna Kiryluk-Materna

Poznan, WP, Poland

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 37 publications

Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes.

Author Correction: Exome analysis links kidney malformations to developmental disorders and reveals causal genes.

Journal: Nature communications
Published: October 09, 2025

Exome analysis links kidney malformations to developmental disorders and reveals causal genes.

Exome analysis links kidney malformations to developmental disorders and reveals causal genes.

Journal: Nature communications
Published: November 16, 2024

Genome-wide studies define new genetic mechanisms of IgA vasculitis.

Genome-wide studies define new genetic mechanisms of IgA vasculitis.

Journal: medRxiv : the preprint server for health sciences
Published: October 17, 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

A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus.

A genotype-phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21.3 locus.

Journal: Frontiers in molecular biosciences
Published: June 30, 2023

Surveillance of multiple congenital anomalies; searching for new associations.

Surveillance of multiple congenital anomalies; searching for new associations.

Journal: European journal of human genetics : EJHG
Published: February 08, 2023

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.

Journal: Journal of the American Society of Nephrology : JASN
Published: September 24, 2022

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.

Journal: Frontiers in molecular biosciences
Published: January 29, 2022

Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries.

Prevalence of vascular disruption anomalies and association with young maternal age: A EUROCAT study to compare the United Kingdom with other European countries.

Journal: Birth defects research
Published: January 24, 2022

Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.

Genome-wide association analyses define pathogenic signaling pathways and prioritize drug targets for IgA nephropathy.

Journal: Nature genetics
Published: December 06, 2021

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Journal: Genes
Published: November 18, 2021

Case Report: Autoimmune Lymphoproliferative Syndrome vs. Chronic Active Epstein-Barr Virus Infection in Children: A Diagnostic Challenge.

Case Report: Autoimmune Lymphoproliferative Syndrome vs. Chronic Active Epstein-Barr Virus Infection in Children: A Diagnostic Challenge.

Journal: Frontiers in pediatrics
Published: October 20, 2021
Showing 1-12 of 37

Last Updated: 09/26/2026