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  1. 1.
    0539741 - ÚMG 2021 RIV CH eng J - Journal Article
    Stolařová, Lenka - Jelinkova, S. - Štorchová, Radka - Machackova, E. - Zemankova, P. - Vocka, M. - Kodet, O. - Král, J. - Černá, M. - Volková, Z. - Janatová, M. - Soukupová, J. - Stránecký, V. - Dundr, P. - Foretová, L. - Macůrek, Libor - Kleiblová, P. - Kleibl, Z.
    Identification of Germline Mutations in Melanoma Patients with Early Onset, Double Primary Tumors, or Family Cancer History by NGS Analysis of 217 Genes.
    Biomedicines. Roč. 8, č. 10 (2020), č. článku 404. E-ISSN 2227-9059
    R&D Projects: GA MZd NV16-30954A; GA MZd NV19-03-00279
    Institutional support: RVO:68378050
    Keywords : melanoma * familial melanoma * hereditary cancer predisposition * germline mutations * panel sequencing * ngs
    OECD category: Oncology
    Impact factor: 6.081, year: 2020
    Method of publishing: Open access
    https://www.mdpi.com/2227-9059/8/10/404
    Permanent Link: http://hdl.handle.net/11104/0317441
     
     
  2. 2.
    0508568 - ÚMG 2020 RIV US eng J - Journal Article
    Kleiblová, P. - Stolárová, L. - Křížová, Kateřina - Lhota, F. - Hojný, J. - Zemankova, P. - Havranek, O. - Vocka, M. - Černá, M. - Lhotova, K. - Borecka, M. - Janatová, M. - Soukupová, J. - Ševčík, J. - Zimovjanová, M. - Kotlas, J. - Panczak, A. - Veselá, K. - Červenková, J. - Schneiderová, M. - Burocziová, Monika - Burdová, Kamila - Stránecký, V. - Foretová, L. - Machackova, E. - Tavandzis, S. - Kmoch, S. - Macůrek, Libor - Kleibl, Z.
    Identification of deleterious germline CHEK2 mutations and their association with breast and ovarian cancer.
    International Journal of Cancer. Roč. 145, č. 7 (2019), s. 1782-1797. ISSN 0020-7136. E-ISSN 1097-0215
    R&D Projects: GA MŠMT(CZ) LQ1604
    Institutional support: RVO:68378050
    Keywords : breast cancer * ovarian cancer * germline mutations * chek2 * vus * kap1 * functional assay
    OECD category: Human genetics
    Impact factor: 5.145, year: 2019
    Method of publishing: Limited access
    https://onlinelibrary.wiley.com/doi/abs/10.1002/ijc.32385
    Permanent Link: http://hdl.handle.net/11104/0305940
    FileDownloadSizeCommentaryVersionAccess
    International_Journal_of_Cancer_P_Kleiblova_2019.pdf63.9 MBPublisher’s postprintrequire
     
     
  3. 3.
    0478051 - ÚI 2018 US eng J - Journal Article
    Turková, H. - Prodanov, T. - Malý, Marek - Martucci, V. - Adams, K. - Widimský, J. - Chen, C. - Ling, A. - Kebebew, E. - Stratakis, C.A. - Fojo, T. - Pacák, K.
    Characteristics and outcomes of metastatic sdhb and sporadic pheochromocytoma/paraganglioma: an national institutes of health study.
    Endocrine Practice. Roč. 22, č. 3 (2016), s. 302-314. ISSN 1530-891X. E-ISSN 1934-2403
    Keywords : succinate-dehydrogenase * germline mutations * gene-mutations * malignant pheochromocytomas * plasma methoxytyramine * hereditary forms * hif2a mutations * max mutations * primary tumor * b gene
    Impact factor: 2.347, year: 2016
    Permanent Link: http://hdl.handle.net/11104/0274323
     
     


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