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Katarzyna Iwanicka-Pronicka

30

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Sensorineural hearing loss in GSD type I patients. A newly recognized symptomatic association of potential clinical significance and unclear pathomechanism.

2021 International Journal of Pediatric Otorhinolaryngology
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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.

2021
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Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland

2019 International Journal of Pediatric Otorhinolaryngology
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Balance control of children and adolescents suffering from vertigo symptoms: in what way posturography is helpful in clinical evaluation of vestibular system pathology?

2019 Acta of Bioengineering and Biomechanics
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Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations

2018 Journal of Human Genetics
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NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy

2018 American Journal of Human Genetics
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Wartości normatywne przesiewowych adaptacyjnych testów dyskryminacji częstotliwości dźwięków i rozdzielczości czasowej układu słuchowego

2017
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Constitutional mosaicism of a de novo TP53 mutation in a patient with bilateral choroid plexus carcinoma

2017 Cancer Genetics and Cytogenetics
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A scoring system predicting the clinical course of CLPB defect based on the foetal and neonatal presentation of 31 patients

2017 Journal of Inherited Metabolic Disease
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Biotinidase Deficiency Presenting as Hyperventilation Syndrome

2017
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