Study of purinosome assembly in cell-based model systems with de novo purine synthesis and salvage pathway deficiencies. by Veronika Baresova, Vaclava Skopova, Olga Souckova, Matyas Krijt, Stanislav Kmoch, Marie Zikanova

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Description of a New Simple and Cost-Effective Molecular Testing That Could Simplify MUC1 Variant Detection by Victor Fages, Florentin Bourre, Romain Larrue, Andrea Wenzel, Jean-Baptiste Gibier, Fabrice Bonte, Claire-Marie Dhaenens, Kendrah Kidd, Stanislav Kmoch, Anthony Bleyer, François Glowacki, Olivier Grunewald

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Faster postnatal decline in hepatic erythropoiesis than granulopoiesis in human newborns by Petra Janovska, Kristina Bardova, Zuzana Prouzova, Zuzana Prouzova, Ilaria Irodenko, Tatyana Kobets, Eliska Haasova, Eliska Haasova, Lenka Steiner Mrazova, Lenka Steiner Mrazova, Viktor Stranecky, Stanislav Kmoch, Martin Rossmeisl, Petr Zouhar, Jan Kopecky

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Characterization of Monogenic Kidney Disease in Older Patients With CKD by Elhussein A.E. Elhassan, Sarah Cormican, Shohdan M. Osman, Sahin Sarihan, Omri Teltsh, Fergus E. Poynton, Matthew D. Griffin, Liam Casserly, Emma McCann, Anthony J. Bleyer, Sr., Stanislav Kmoch, Martina Živná, Katherine A. Benson, Gianpiero L. Cavalleri, Peter J. Conlon

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Eight-fold increased COVID-19 mortality in autosomal dominant tubulointerstitial kidney disease due to MUC1 mutations: an observational study by Kendrah O. Kidd, Adrienne H. Williams, Abbigail Taylor, Lauren Martin, Victoria Robins, John A. Sayer, Eric Olinger, Holly R. Mabillard, Gregory Papagregoriou, Constantinos Deltas, Christoforos Stavrou, Peter J. Conlon, Richard Edmund Hogan, Elhussein A.E. Elhassan, Drahomíra Springer, Tomáš Zima, Claudia Izzi, Alena Vrbacká, Lenka Piherová, Michal Pohludka, Martin Radina, Petr Vylet’al, Katerina Hodanova, Martina Zivna, Stanislav Kmoch, Anthony J. Bleyer

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A Novel Monoallelic ALG5 Variant Causing Late-Onset ADPKD and Tubulointerstitial Fibrosis by Elhussein A.E. Elhassan, Tereza Kmochová, Katherine A. Benson, Neil K. Fennelly, Veronika Barešová, Kendrah Kidd, Brendan Doyle, Anthony Dorman, Martina M. Morrin, Niamh C. Kyne, Petr Vyleťal, Hana Hartmannová, Kateřina Hodaňová, Jana Sovová, Dita Mušálková, Alena Vrbacká, Anna Přistoupilová, Jan Živný, Klára Svojšová, Martin Radina, Viktor Stránecký, Dmitry Loginov, Petr Pompach, Petr Novák, Zdislava Vaníčková, Hana Hansíková, Silvie Rajnochová-Bloudíčková, Ondřej Viklický, Helena Hůlková, Gianpiero L. Cavalleri, Aleš Hnízda, Anthony J. Bleyer, Stanislav Kmoch, Peter J. Conlon, Martina Živná

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