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List of works by Katarzyna Iwanicka-Pronicka

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

scientific article

Analysis of specificity and sensitivity of Polish "Universal Newborn Hearing Screening Program"

scientific article published in January 2008

Analysis of the auditory processing skills in 1,012 children aged 6–9 confirms the adequacy of APD testing in 6-year-olds

scientific article published in 2022

Analysis of voice quality in patients with late-onset Pompe disease.

scientific article

Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences

scientific article

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

scientific article published on 01 January 2019

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

scientific article published on 15 July 2021

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

scientific article

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

scientific article published on 16 March 2019

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

scientific article

Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

scientific article published on 01 January 2018

Histopathological liver findings in patients with hepatocerebral mitochondrial depletion syndrome with defined molecular basis

scientific article published on 01 January 2019

Kardiologiczna manifestacja zespołu MELAS wywołana mutacją mDNA w pozycji 3243

scientific article published on 01 January 2014

Leigh disease due to SCO2 mutations revealed at extended autopsy.

scientific article

Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?

scientific article

Life-threatening cardiac episode in a Polish patient carrying contiguous gene microdeletion of the TBX5 and the TBX3 genes.

scientific article published on 21 September 2016

MTHFR 677T is a strong determinant of the degree of hearing loss among Polish males with postlingual sensorineural hearing impairment

scientific article

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

scientific article published in February 2018

Neuropathological characteristics of the brain in two patients with SLC19A3 mutations related to the biotin-thiamine-responsive basal ganglia disease

scientific article

No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction

scientific article published on 2 October 2015

Novel variant in HDAC8 gene resulting in the severe Cornelia de Lange phenotype

scientific article published on 01 July 2019

Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype

scientific article

Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases

scientific article published on 2 December 2017

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

scientific article published on 10 November 2021

The 50-years' history of recommendations for organization of universal hearing screening

scientific article published in January 2007

Tubulointerstitial nephritis with uveitis: clinico-pathological and immunological study.

scientific article published on 7 June 2002

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