Exome sequencing reveals IFT172 variants in patients with non-syndromic cholestatic liver disease

por Neřoldová, Magdaléna, Ciara, Elżbieta, Slatinská, Janka, Fraňková, Soňa, Lišková, Petra, Kotalová, Radana, Globinovská, Janka, Šafaříková, Markéta, Pfeiferová, Lucie, Zůnová, Hana, Mrázová, Lenka, Stránecký, Viktor, Vrbacká, Alena, Fabián, Ondřej, Sticová, Eva, Skanderová, Daniela, Šperl, Jan, Kalousová, Marta, Zima, Tomáš, Macek, Milan, Pawlowska, Joanna, Knisely, A. S., Kmoch, Stanislav, Jirsa, Milan
Publicado 2023

Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations

por Kidd, Kendrah, Vylet’al, Petr, Schaeffer, Céline, Olinger, Eric, Živná, Martina, Hodaňová, Kateřina, Robins, Victoria, Johnson, Emily, Taylor, Abbigail, Martin, Lauren, Izzi, Claudia, Jorge, Sofia C., Calado, Joaquim, Torres, Rosa J., Lhotta, Karl, Steubl, Dominik, Gale, Daniel P., Gast, Christine, Gombos, Eva, Ainsworth, Hannah C., Chen, Ying Maggie, Almeida, Jorge Reis, de Souza, Cintia Fernandes, Silveira, Catarina, Raposeiro, Rita, Weller, Nelson, Conlon, Peter J., Murray, Susan L., Benson, Katherine A., Cavalleri, Gianpiero L., Votruba, Miroslav, Vrbacká, Alena, Amoroso, Antonio, Gianchino, Daniela, Caridi, Gianluca, Ghiggeri, Gian Marco, Divers, Jasmin, Scolari, Francesco, Devuyst, Olivier, Rampoldi, Luca, Kmoch, Stanislav, Bleyer, Anthony J.
Publicado 2020