Katarzyna Klonowska
Poznan, WP, Poland
Last Updated: 09/26/2026
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Found 26 publications
The phosphoproteomic landscape of the neurological manifestations in tuberous sclerosis complex.
Journal: Acta neuropathologica
Published: February 04, 2026
Genotype-based prevalence of Birt-Hogg-Dubé syndrome in the healthcare and genomic registry populations - breaking the 'rare disease' status?
Journal: NPJ genomic medicine
Published: December 03, 2025
High prevalence of TSC2 mutations in lung tissue samples from patients with sporadic lymphangioleiomyomatosis.
Journal: The European respiratory journal
Published: October 29, 2025
Whole-miRNome sequencing: a panel for the targeted sequencing of all human miRNA genes.
Journal: Nucleic acids research
Published: March 13, 2025
TSC angiofibroma and ungual fibroma have different mutation signatures, with recurrent mutations in KMT2C.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 23, 2025
Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants.
Journal: Gene
Published: April 04, 2023
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years.
Journal: Nature communications
Published: February 23, 2023
Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex.
Journal: American journal of human genetics
Published: January 10, 2023
Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.
Journal: The Journal of clinical investigation
Published: October 15, 2021
Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex.
Journal: Journal of medical genetics
Published: August 19, 2021
Phase II Clinical Trial of Everolimus in a Pan-Cancer Cohort of Patients with mTOR Pathway Alterations.
Journal: Clinical cancer research : an official journal of the American Association for Cancer Research
Published: November 23, 2020
Last Updated: 09/26/2026