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Journal Article
Zivna, Martina, Kidd, Kendrah, Zaidan, Mohamad, Vyletal, Petr 
ORCID: 0000-0002-9357-1237, Baresova, Veronika, Hodanova, Katerina, Sovova, Jana, Hartmannova, Hana, Votruba, Miroslav, Treslova, Helena, Jedlickova, Ivana, Sikora, Jakub, Hulkova, Helena, Robins, Victoria, Hnizda, Ales, Zivny, Jan, Papagregoriou, Gregory, Mesnard, Laurent, Beck, Bodo B., Wenzel, Andrea, Tory, Kalman, Haeeffner, Karsten, Wolf, Matthias T. F., Bleyer, Michael E., Sayer, John A., Ong, Albert C. M., Balogh, Lidia, Jakubowska, Anna, Laszkiewicz, Agnieszka ORCID: 0000-0002-0317-4255, Clissold, Rhian, Shaw-Smith, Charles, Munshi, Raj, Haws, Robert M., Izzi, Claudia, Capelli, Irene, Santostefano, Marisa, Graziano, Claudio ORCID: 0000-0003-3875-6869, Scolari, Francesco, Sussman, Amy, Trachtman, Howard ORCID: 0000-0001-7447-9489, Decramer, Stephane, Matignon, Marie, Grimbert, Philippe, Shoemaker, Lawrence R., Stavrou, Christoforos, Abdelwahed, Mayssa, Belghith, Neila, Sinclair, Matthew, Claes, Kathleen, Kopel, Tal, Moe, Sharon, Deltas, Constantinos, Knebelmann, Bertrand, Rampoldi, Luca, Kmoch, Stanislav and Bleyer, Anthony J.
(2020).
An international cohort study of autosomal dominant tubulointerstitial kidney disease due to REN mutations identifies distinct clinical subtypes.
Kidney Int., 98 (6).
S. 1589 - 1605.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1523-1755
Graziano, Claudio ORCID: 0000-0003-3875-6869, Despang, Patrick, Palombo, Flavia, Severi, Giulia ORCID: 0000-0001-8184-865X, Posar, Annio ORCID: 0000-0002-5024-4578, Cassio, Alessandra, Pippucci, Tommaso, Isidori, Federica, Matthes, Jan and Bonora, Elena
.
A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder.
J. Autism Dev. Disord..
NEW YORK:
SPRINGER/PLENUM PUBLISHERS.
ISSN 1573-3432