Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Albertien van Eerde"'
Autor:
Roman-Ulrich Müller, A. Lianne Messchendorp, Henrik Birn, Giovambattista Capasso, Emilie Cornec-Le Gall, Olivier Devuyst, Albertien van Eerde, Patrick Guirchoun, Tess Harris, Ewout J. Hoorn, Nine V.A.M. Knoers, Uwe Korst, Djalila Mekahli, Yannick Le Meur, Tom Nijenhuis, Albert C.M. Ong, John A. Sayer, Franz Schaefer, Aude Servais, Vladimir Tesar, Roser Torra, Stephen B. Walsh and Ron T. Gansevoort
Publikováno v:
Počki, Vol 11, Iss 1, Pp 37-39 (2022)
No abstract
Externí odkaz:
https://doaj.org/article/3f3763f45a78472d9048eb2d6d9503c1
Autor:
Judy Savige, Helen Storey, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Alessandra Renieri, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabeth Ars, Agnieszka Bierzynska, Concetta Gangemi, Beata S. Lipska-Ziętkiewicz
Publikováno v:
European Journal of Human Genetics.
Autor:
Floranne Boulogne, Laura Claus, Henry Wiersma, Roy Oelen, Floor Schukking, Niek de Klein, Shuang Li, Harm-Jan Westra, Bert van der Zwaag, Franka van Reekum, Dana Sierks, Ria Schönauer, Zhigui Li, Emilia Bijlsma, Willem Jan Bos, Jan Halbritter, Nine Knoers, Whitney Besse, Patrick Deelen, Lude Franke, Albertien van Eerde
Genetic testing in patients with suspected hereditary kidney disease may not reveal the genetic cause for the disorder as potentially pathogenic variants can reside in genes that are not yet known to be involved in kidney disease. To help identify th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::36c4362c139d6655acdc5a724d222027
https://doi.org/10.21203/rs.3.rs-1870632/v1
https://doi.org/10.21203/rs.3.rs-1870632/v1
Autor:
Judy Savige, Beata S. Lipska-Zietkiewicz, Elizabeth Watson, Jens Michael Hertz, Constantinos Deltas, Francesca Mari, Pascale Hilbert, Pavlina Plevova, Peter Byers, Agne Cerkauskaite, Martin Gregory, Rimante Cerkauskiene, Danica Galesic Ljubanovic, Francesca Becherucci, Carmela Errichiello, Laura Massella, Valeria Aiello, Rachel Lennon, Louise Hopkinson, Ania Koziell, Adrian Lungu, Hansjorg Martin Rothe, Julia Hoefele, Miriam Zacchia, Tamara Nikuseva Martic, Asheeta Gupta, Albertien van Eerde, Susie Gear, Samuela Landini, Viviana Palazzo, Laith al-Rabadi, Kathleen Claes, Anniek Corveleyn, Evelien Van Hoof, Micheel van Geel, Maggie Williams, Emma Ashton, Hendica Belge, Elisabet Ars, Agnieszka Bierzynska, Concetta Gangemi, Alessandra Renieri, Helen Storey, Frances Flinter
Publikováno v:
Clinical Journal of the American Society of Nephrology
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Universidad Europea (UEM)
Clin J Am Soc Nephrol
Clinical journal of the American Society of Nephrology, 17(1), 143-154. American Society of Nephrology
Savige, J, Lipska-Zietkiewicz, B S, Watson, E, Hertz, J M, Deltas, C, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, D G, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, Al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C, Renieri, A, Storey, H & Flinter, F 2022, ' Guidelines for Genetic Testing and Management of Alport Syndrome ', Clinical Journal of American Society of Nephrology., vol. 17, no. 1, pp. 143-154 . https://doi.org/10.2215/CJN.04230321
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Universidad Europea (UEM)
Clin J Am Soc Nephrol
Clinical journal of the American Society of Nephrology, 17(1), 143-154. American Society of Nephrology
Savige, J, Lipska-Zietkiewicz, B S, Watson, E, Hertz, J M, Deltas, C, Mari, F, Hilbert, P, Plevova, P, Byers, P, Cerkauskaite, A, Gregory, M, Cerkauskiene, R, Ljubanovic, D G, Becherucci, F, Errichiello, C, Massella, L, Aiello, V, Lennon, R, Hopkinson, L, Koziell, A, Lungu, A, Rothe, H M, Hoefele, J, Zacchia, M, Martic, T N, Gupta, A, van Eerde, A, Gear, S, Landini, S, Palazzo, V, Al-Rabadi, L, Claes, K, Corveleyn, A, Van Hoof, E, van Geel, M, Williams, M, Ashton, E, Belge, H, Ars, E, Bierzynska, A, Gangemi, C, Renieri, A, Storey, H & Flinter, F 2022, ' Guidelines for Genetic Testing and Management of Alport Syndrome ', Clinical Journal of American Society of Nephrology., vol. 17, no. 1, pp. 143-154 . https://doi.org/10.2215/CJN.04230321
Genetic testing for pathogenic COL4A3-5 variants is usually undertaken to investigate the cause of persistent hematuria, especially with a family history of hematuria or kidney function impairment. Alport syndrome experts now advocate genetic testing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0851184c2730de09da5d744112eb31e8
https://www.bib.irb.hr/1197195
https://www.bib.irb.hr/1197195