Results of targeted next-generation sequencing in children with cystic kidney diseases often change the clinical diagnosis.

by Lena Obeidova, Tomas Seeman, Filip Fencl, Kveta Blahova, Jan Hojny, Veronika Elisakova, Jana Reiterova, Jitka Stekrova
Published 2020-01-01

Novel SAMD9 Mutation in a Patient With Immunodeficiency, Neutropenia, Impaired Anti-CMV Response, and Severe Gastrointestinal Involvement

by Renata Formankova, Veronika Kanderova, Marketa Rackova, Michael Svaton, Tomas Brdicka, Petr Riha, Petra Keslova, Ester Mejstrikova, Marketa Zaliova, Tomas Freiberger, Tomas Freiberger, Tomas Freiberger, Hana Grombirikova, Hana Grombirikova, Zuzana Zemanova, Marcela Vlkova, Marcela Vlkova, Filip Fencl, Ivana Copova, Jiri Bronsky, Petr Jabandziev, Petr Jabandziev, Petr Jabandziev, Petr Sedlacek, Jana Soukalova, Jana Soukalova, Ondrej Zapletal, Jan Stary, Jan Trka, Tomas Kalina, Karolina Skvarova Kramarzova, Eva Hlavackova, Eva Hlavackova, Jiri Litzman, Jiri Litzman, Eva Fronkova
Published 2019-09-01