Krystyna H. Chrzanowska

Warsaw, MZ, Poland

Last Updated: 09/26/2026

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Found 65 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

PURA-Related Neurodevelopmental Disorder: Insight from Eight New Cases.

PURA-Related Neurodevelopmental Disorder: Insight from Eight New Cases.

Journal: Genes

Published: May 04, 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

Unexpected Virilization in a Patient with Turner Syndrome with Unbalanced Y/7 Translocation in the Gonadal Tissue: Gonadoblastoma Diagnosis.

Unexpected Virilization in a Patient with Turner Syndrome with Unbalanced Y/7 Translocation in the Gonadal Tissue: Gonadoblastoma Diagnosis.

Journal: Journal of pediatric and adolescent gynecology

Published: November 03, 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

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

Silver-Russell syndrome: phenotype features and oral health status.

Silver-Russell syndrome: phenotype features and oral health status.

Journal: Orphanet journal of rare diseases

Published: October 04, 2023

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Journal: Human genetics

Published: August 28, 2023

X-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA gene.

X-linked myxomatous valvular dystrophy in a patient with a novel mutation in the FLNA gene.

Journal: Kardiologia polska

Published: December 23, 2022

Showing 1-12 of 65

Last Updated: 09/26/2026