Grazyna Kostrzewa
Warsaw, MZ, Poland
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 31 publications
Beyond SGCE: expanding the clinical and molecular spectrum of KCTD17- and KCNN2-related myoclonus-dystonia.
Journal: Frontiers in neurology
Published: October 19, 2025
Genetic architecture of dilated cardiomyopathy in Poland: variant distribution, clinical characteristics, and prognosis.
Journal: Polish archives of internal medicine
Published: August 12, 2025
Molecular Review of Suspected Alport Syndrome Patients-A Single-Centre Experience.
Journal: Genes
Published: December 27, 2024
The Attenuated Phenotype of CNTNAP1-Related Neuropathy Mimics Spastic-Dystonic Cerebral Palsy.
Journal: American journal of medical genetics. Part A
Published: November 20, 2024
Functional signatures of de novo GABBR1 and GABBR2 variants associated with neurodevelopmental disorders.
Journal: NPJ genomic medicine
Published: November 12, 2024
Case Report: Cholestatic liver disease in the course of erythropoietic protoporphyria associated with renal hypodysplasia and atrial septal defect.
Journal: Frontiers in pediatrics
Published: September 30, 2024
The epilepsy phenotype of KCNK4-related neurodevelopmental disease.
Journal: Seizure
Published: June 04, 2024
Clinical Presentation of Left Ventricular Noncompaction Cardiomyopathy and Bradycardia in Three Families Carrying HCN4 Pathogenic Variants.
Journal: Genes
Published: February 17, 2022
Postzygotic mosaicism of a novel PTPN11 mutation in monozygotic twins discordant for metachondromatosis.
Journal: American journal of medical genetics. Part A
Published: June 03, 2021
A recurrent de novo variant supports KCNC2 involvement in the pathogenesis of developmental and epileptic encephalopathy.
Journal: American journal of medical genetics. Part A
Published: April 20, 2021
Last Updated: 09/26/2026