Molecular diagnosis of congenital neutropenia
Mgr. Veronika Medová
Congenital neutropenia is a group of primary immunodeficiency disorders characterized by a low neutrophil count, which may be syndromic with the presence of various extrahematological...
ELANE, molecular genetics, neutropénia, next-generation sequencing, WES
newslab 2021, 01 : 32 - 36
Potential of next generation sequencing in screening of Lynch syndrome
Ondrej Pös, Mária Haršanyová, RNDr. Tomáš Szemes, PhD.
Lynch syndrome is the most common cause of hereditary colorectal carcinoma and the population of males in Slovakia have the highest incidence worldwide. Molecular methods...
colorectal cancer, Lynch syndrome, next-generation sequencing, sekvenovanie novej generácie
Genetic landscape of breast cancer
RNDr. Miroslav Tomka, PhD.
Breast cancer encompasses heterogeneous group of tumors with different histological, biological and clinical behavior. Intra- and inter-tumor heterogeneity as a result of genetic and non-genetic...
breast cancer, comparative genome hybridization, copy number variations, next-generation sequencing
newslab 2016, 2 : 102
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