Sylwia Niewczas-Rzonca

17a Kasprzaka Street
Warsaw, MZ 01211, Poland

Last Updated: 09/26/2026

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Found 8 publications

A rare GCH1 p.Arg170Gly variant shows impaired enzymatic activity and co-occurs with a novel NEXMIF p.Asp155GlnfsTer2 leading to a complex neurological phenotype: functional studies and clinical aspects.

A rare GCH1 p.Arg170Gly variant shows impaired enzymatic activity and co-occurs with a novel NEXMIF p.Asp155GlnfsTer2 leading to a complex neurological phenotype: functional studies and clinical aspects.

Journal: Molecular genetics and metabolism

Published: November 19, 2025

Clinic-to-Mechanism: Unraveling in-depth molecular dysfunctions caused by a GluN2B C-Terminal deletion in developmental and epileptic encephalopathies.

Clinic-to-Mechanism: Unraveling in-depth molecular dysfunctions caused by a GluN2B C-Terminal deletion in developmental and epileptic encephalopathies.

Journal: Translational psychiatry

Published: September 15, 2025

Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.

Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.

Journal: Orphanet journal of rare diseases

Published: January 04, 2024

The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model.

The Generation of Human iPSC Lines from Three Individuals with Dravet Syndrome and Characterization of Neural Differentiation Markers in iPSC-Derived Ventral Forebrain Organoid Model.

Journal: Cells

Published: October 25, 2022

Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.

Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.

Journal: International journal of molecular sciences

Published: April 23, 2022

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.

Expanding the genetics and phenotypic spectrum of Lysine-specific demethylase 5C (KDM5C): a report of 13 novel variants.

Journal: European journal of human genetics : EJHG

Published: April 08, 2022

Destabilization of mutated human PUS3 protein causes intellectual disability.

Destabilization of mutated human PUS3 protein causes intellectual disability.

Journal: Human mutation

Published: February 21, 2022

WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.

WDR13: A Novel Gene Implicated in Non-Syndromic Intellectual Disability.

Journal: Genes

Published: November 09, 2021

Showing 1-8 of 8

Last Updated: 09/26/2026