Paulina Wolska-Halat

Warsaw, MZ, Poland

Last Updated: 09/26/2026

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Found 13 publications

Phenotypic And Molecular Characteristics of Three Additional Patients With HUWE1-Related X-Linked Intellectual Disability.

Phenotypic And Molecular Characteristics of Three Additional Patients With HUWE1-Related X-Linked Intellectual Disability.

Journal: Balkan journal of medical genetics : BJMG

Published: May 18, 2026

Epilepsy as a Component of the Dysmorphic-Neurodevelopmental Phenotype in Pediatric Patients with Recurrent Copy Number Variants.

Epilepsy as a Component of the Dysmorphic-Neurodevelopmental Phenotype in Pediatric Patients with Recurrent Copy Number Variants.

Journal: Genes

Published: January 21, 2026

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

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

Molecular Review of Suspected Alport Syndrome Patients-A Single-Centre Experience.

Molecular Review of Suspected Alport Syndrome Patients-A Single-Centre Experience.

Journal: Genes

Published: December 27, 2024

Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease.

Efficacy and Safety of Ketogenic Diet Treatment in Pediatric Patients with Mitochondrial Disease.

Journal: Nutrients

Published: January 08, 2024

The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype.

The fibroblast growth factor 21 concentration in children with mitochondrial disease does not depend on the disease stage, but rather on the disease genotype.

Journal: Pediatric endocrinology, diabetes, and metabolism

Published: May 27, 2022

Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.

Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.

Journal: Molecular genetics and metabolism reports

Published: July 06, 2021

Correction to: Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.

Correction to: Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.

Journal: Journal of applied genetics

Published: May 27, 2021

Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.

Anthropometric characteristics of 65 Polish Smith-Lemli-Opitz patients.

Journal: Journal of applied genetics

Published: February 25, 2021

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 13

Last Updated: 09/26/2026