A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype

بواسطة Miroslava Hancarova, Davit Babikyan, Sarka Bendova, Susanna Midyan, Darina Prchalova, Gohar Shahsuvaryan, Viktor Stranecky, Tamara Sarkisian, Zdenek Sedlacek
منشور في 2019-09-01

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

بواسطة Jana Soukupova, Petra Zemankova, Klara Lhotova, Marketa Janatova, Marianna Borecka, Lenka Stolarova, Filip Lhota, Lenka Foretova, Eva Machackova, Viktor Stranecky, Spiros Tavandzis, Petra Kleiblova, Michal Vocka, Hana Hartmannova, Katerina Hodanova, Stanislav Kmoch, Zdenek Kleibl
منشور في 2018-01-01

Multigene Panel Germline Testing of 1333 Czech Patients with Ovarian Cancer

بواسطة Klara Lhotova, Lenka Stolarova, Petra Zemankova, Michal Vocka, Marketa Janatova, Marianna Borecka, Marta Cerna, Sandra Jelinkova, Jan Kral, Zuzana Volkova, Marketa Urbanova, Petra Kleiblova, Eva Machackova, Lenka Foretova, Jana Hazova, Petra Vasickova, Filip Lhota, Monika Koudova, Leona Cerna, Spiros Tavandzis, Jana Indrakova, Lucie Hruskova, Marcela Kosarova, Radek Vrtel, Viktor Stranecky, Stanislav Kmoch, Michal Zikan, Libor Macurek, Zdenek Kleibl, Jana Soukupova
منشور في 2020-04-01