NGS
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Parallel DNA/RNA NGS Using an Identical Target Enrichment Panel in the Analysis of Hereditary Cancer Predisposition
Petra Kleiblová, Marta Černá, Petra Zemánková, Kateřina Matějková, Petr Nehasil, Jan Hojný, Klára Horáčková, Markéta Janatová, Jana Soukupová, Barbora Šťastná, Zdeněk Kleibl
2024, Vol. 70, Issue 1, pp. 62-73 -
Hereditary Haemorrhagic Telangiectasia (HHT) Marked by ACVRL1C1120T Variant Displays Hypopigmented Naevi and Frequent Bleeding Episodes if CYP2C9 Co-Mutated: Clinical Notes & Rationale of Patient Registry
L. Minarik, K. Vargova, N. Dusilkova, V. Kulvait, A. Jonasova, O. Kodet, Tomas Stopka
2020, Vol. 66, Issue 1, pp. 1-6
