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List of works by Katarzyna Klonowska

An MLPA-based approach for high-resolution genotyping of disease-related multi-allelic CNVs

scientific article published on 2 June 2014

Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example

scientific article published on 21 May 2015

BARD1 is A Low/Moderate Breast Cancer Risk Gene: Evidence Based on An Association Study of the Central European p.Q564X Recurrent Mutation

scientific article published on 28 May 2019

Cancer predisposing BARD1 mutations affect exon skipping and are associated with overexpression of specific BARD1 isoforms

scientific article published on September 2015

Celecoxib in LAM: Results of a Phase I Clinical Trial

scientific article published on 20 February 2020

Genetic Etiologies, Diagnosis, and Treatment of Tuberous Sclerosis Complex

scientific article published on 24 April 2019

High copy number variation of cancer-related microRNA genes and frequent amplification of DICER1 and DROSHA in lung cancer.

scientific article

Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes - Providing evidence of cancer predisposition genes

scientific article published on 04 February 2019

MTTE: an innovative strategy for the evaluation of targeted/exome enrichment efficiency

scientific article

Meeting abstracts from the Annual Conference on Hereditary Cancers 2015: Szczecin, Poland. 24-25 September, 2015.

scientific article published on 10 October 2017

Oncogenomic portals for the visualization and analysis of genome-wide cancer data

scientific article

Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and Ovarian Cancer

scientific article published on 01 January 2021

TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study

scientific article published on 28 May 2020

The 30 kb deletion in the APOBEC3 cluster decreases APOBEC3A and APOBEC3B expression and creates a transcriptionally active hybrid gene but does not associate with breast cancer in the European population

scientific article published on 19 July 2017

The use of a two-tiered testing strategy for the simultaneous detection of small EGFR mutations and EGFR amplification in lung cancer

scientific article

Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex

scientific article published on 01 May 2022

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