Krzysztof Szczaluba
Pawinskiego 3c Str
Warsaw, MZ 02106, Poland
Warsaw, MZ 02106, Poland
Last Updated: 09/26/2026
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Found 72 publications
Clinical Phenotype Comparison in Polish Patient Cohorts with and Without Molecular Diagnosis of Dystonia.
Journal: Journal of clinical medicine
Published: April 29, 2026
Comprehensive classification of HCN1 variants linked to neurodevelopmental disorders with and without epilepsy.
Journal: bioRxiv : the preprint server for biology
Published: March 27, 2026
Multidimensional Motor Phenotype Characterization in Children with Joubert Syndrome: A Cross-Sectional Cohort Study.
Journal: Journal of clinical medicine
Published: March 03, 2026
Neurorehabilitation and Functional Improvement in Joubert Syndrome: A 12-Month Case Report.
Journal: Children (Basel, Switzerland)
Published: February 15, 2026
Multidimensional Functional Phenotyping in Children with Joubert Syndrome: A Pilot Case Series.
Journal: Brain sciences
Published: February 10, 2026
Seizure worsening and sodium channel blockers in HCN1-related epilepsies: A case series.
Journal: Developmental medicine and child neurology
Published: February 10, 2026
Deciphering the Genetic Basis of Congenital Vertebral Malformations Through a Stepwise Diagnostic Approach.
Journal: International journal of molecular sciences
Published: January 02, 2026
Cardiofaciocutaneous syndrome type 4: A comprehensive review of the MAP2K2-related clinical features, diagnostics, and management.
Journal: Advances in clinical and experimental medicine : official organ Wroclaw Medical University
Published: December 20, 2025
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
Cardiofaciocutaneous Syndrome Type 4 due to a MAP2K2 Variant: Expanding the Phenotypic Spectrum With Feeding Dysfunction and Neurodevelopmental Involvement.
Journal: Clinical case reports
Published: October 16, 2025
Priority European strategies for sustainable access to high-quality genetic counselling in cancer: A Delphi study.
Journal: European journal of human genetics : EJHG
Published: October 14, 2025
Visual Function Characteristics in STXBP1 Epileptic Encephalopathy Patients.
Journal: Journal of clinical medicine
Published: July 13, 2025
Last Updated: 09/26/2026