Dorota Jurkiewicz

Warsaw, MZ 04730, Poland

Last Updated: 09/26/2026

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Found 27 publications

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.

Journal: Genes

Published: November 30, 2025

Longitudinal study of somatic development in Polish patients with Silver-Russell syndrome reveals that chest-to-head proportion as a new clinical indicator for the syndrome.

Longitudinal study of somatic development in Polish patients with Silver-Russell syndrome reveals that chest-to-head proportion as a new clinical indicator for the syndrome.

Journal: Orphanet journal of rare diseases

Published: August 28, 2025

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

Rubinstein-Taybi Syndrome: A Comprehensive Analysis of a Polish Cohort with Most Cases Due to Novel CREBBP and EP300 Variants.

Journal: Genes

Published: August 20, 2025

Family report of Birk-Barel syndrome - a neurodevelopmental channelopathy with epigenetic signature.

Family report of Birk-Barel syndrome - a neurodevelopmental channelopathy with epigenetic signature.

Journal: Neurologia i neurochirurgia polska

Published: January 28, 2025

Clinical heterogeneity of polish patients with KAT6B-related disorder.

Clinical heterogeneity of polish patients with KAT6B-related disorder.

Journal: Molecular genetics & genomic medicine

Published: March 29, 2023

DCDC2-Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases.

DCDC2-Related Ciliopathy: Report of Six Polish Patients, Novel DCDC2 Variant, and Literature Review of Reported Cases.

Journal: Diagnostics (Basel, Switzerland)

Published: March 27, 2023

The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome.

The effects of 3-year growth hormone treatment and body composition in Polish patients with Silver-Russell syndrome.

Journal: Endokrynologia Polska

Published: December 05, 2022

Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights.

Case Report: Adenosine kinase deficiency diagnosed 10 years after liver transplantation: Novel phenotypic insights.

Journal: Frontiers in pediatrics

Published: October 04, 2022

Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up.

Progressive familial intrahepatic cholestasis type 3: Report of four clinical cases, novel ABCB4 variants and long-term follow-up.

Journal: Annals of hepatology

Published: November 18, 2020

Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature.

Sterol 27-Hydroxylase Deficiency as a Cause of Neonatal Cholestasis: Report of 2 Cases and Review of the Literature.

Journal: Frontiers in pediatrics

Published: October 12, 2020

X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background.

X-linked hypophosphataemic rickets in children: clinical phenotype, therapeutic strategies, and molecular background.

Journal: Endokrynologia Polska

Published: August 28, 2020

Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD).

Occurrence of Portal Hypertension and Its Clinical Course in Patients With Molecularly Confirmed Autosomal Recessive Polycystic Kidney Disease (ARPKD).

Journal: Frontiers in pediatrics

Published: August 04, 2020

Showing 1-12 of 27

Last Updated: 09/26/2026