Krzysztof Szczałuba

assistant professor

Medical University of Warsaw

Poland

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About

Dr. Krzysztof Szczałuba is an assistant professor at the Medical University of Warsaw, Poland. His research focuses on genetic syndromes, neurodevelopmental disorders, and the implications of genetic mutations in various clinical conditions. Recent publications include studies on STXBP1 epileptic encephalopathy, Noonan syndrome, and the diagnostic features of several rare genetic disorders.

Articles (12)

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2025

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2025

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2024

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2023

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2023

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2021

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2021

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2021

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2021

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2020

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2020

Assistant professor

Poznan University of Medical Sciences

POLAND

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Ploski R

POLAND

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Krzysztof Szczałuba

Research Interests

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About

Articles (12)

Visual Function Characteristics in STXBP1 Epileptic Encephalopathy Patients

Maternal Uniparental Isodisomy of Chromosome 6: A Novel Case of Teratoma and Autism Spectrum Disorder with a Diagnostic and Management Framework

Further characteristics of Noonan Syndrome type 13 caused by MAPK1 loss of function variant: Case report and literature review

Diet and Nutritional Status of Polish Girls with Rett Syndrome—A Case-Control Study

Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4‐Related Hereditary Spastic Paraplegia

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 <i>ANKRD11</i> Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3

Brain Tissue Low-Level Mosaicism for MTOR Mutation Causes Smith–Kingsmore Phenotype with Recurrent Hypoglycemia—A Novel Phenotype and a Further Proof for Testing of an Affected Tissue

Kabuki Syndrome—Clinical Review with Molecular Aspects

Variable degree of mosaicism for tetrasomy 18p in phenotypically discordant monozygotic twins—Diagnostic implications

Intracardiac tumor as a rare manifestation of genetic syndromes—presentation of a family with Gorlin syndrome and a literature review

A novel biallelic splice‐site variant in the LRP4 gene causes sclerosteosis 2

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

Collaborators (10)

Aleksandra Landowska

Magdalena Milewska

Katarzyna Niepokój

Karolina Rutkowska

Marta Smyk

Piotr Loba

Anna Kutkowska-Kaźmierczak

Mateusz Dawidziuk

Anna Sowińska-Seidler

Ploski R

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