Karolina Rutkowska

Warsaw, MZ 02106, Poland

Last Updated: 09/26/2026

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Found 14 publications

PAK1 (p21-Activated Kinase 1) and Its Role in Neurodevelopmental Disorders-New Case Report and a Comprehensive Review.

PAK1 (p21-Activated Kinase 1) and Its Role in Neurodevelopmental Disorders-New Case Report and a Comprehensive Review.

Journal: International journal of molecular sciences
Published: October 31, 2025

Effects of Turmeric and Rosemary Extract on Oxidative Stress Markers in Goats.

Effects of Turmeric and Rosemary Extract on Oxidative Stress Markers in Goats.

Journal: Animals : an open access journal from MDPI
Published: December 09, 2024

A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report.

A Rare De Novo Mutation in the TRIM8 Gene in a 17-Year-Old Boy with Steroid-Resistant Nephrotic Syndrome: Case Report.

Journal: International journal of molecular sciences
Published: March 20, 2024

Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia-The Neonatal Type of Alexander Disease.

Leukodystrophy with Macrocephaly, Refractory Epilepsy, and Severe Hyponatremia-The Neonatal Type of Alexander Disease.

Journal: Genes
Published: February 05, 2024

The Expression of Selected Cytokine Genes in the Livers of Young Castrated Bucks after Supplementation with a Mixture of Dry Curcuma longa and Rosmarinus officinalis Extracts.

The Expression of Selected Cytokine Genes in the Livers of Young Castrated Bucks after Supplementation with a Mixture of Dry Curcuma longa and Rosmarinus officinalis Extracts.

Journal: Animals : an open access journal from MDPI
Published: September 19, 2023

Effect of Supplementation with Curcuma longa and Rosmarinus officinalis Extract Mixture on Acute Phase Protein, Cathelicidin, Defensin and Cytolytic Protein Gene Expression in the Livers of Young Castrated Polish White Improved Bucks.

Effect of Supplementation with Curcuma longa and Rosmarinus officinalis Extract Mixture on Acute Phase Protein, Cathelicidin, Defensin and Cytolytic Protein Gene Expression in the Livers of Young Castrated Polish White Improved Bucks.

Journal: Genes
Published: August 17, 2023

Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants.

Broadening the phenotypic spectrum of the presumably epilepsy-related SV2A gene variants.

Journal: Epilepsy research
Published: November 10, 2022

A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia.

A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia.

Journal: Human molecular genetics
Published: October 07, 2022

Expanding the phenotype of DNAJC30-associated Leigh syndrome.

Expanding the phenotype of DNAJC30-associated Leigh syndrome.

Journal: Clinical genetics
Published: May 21, 2022

Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children-A Single Reference Center Experience.

Genetic Profile of Left Ventricular Noncompaction Cardiomyopathy in Children-A Single Reference Center Experience.

Journal: Genes
Published: April 22, 2022

FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.

FINCA syndrome-Defining neurobehavioral phenotype in survivors into late childhood.

Journal: Molecular genetics & genomic medicine
Published: July 09, 2021

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3.

Journal: Genes
Published: May 26, 2021
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Last Updated: 09/26/2026