Treatment and long-term outcome in primary nephrogenic diabetes insipidus
Lopez-Garcia, Sergio C, Downie, Mallory L, Kim, Ji Soo, Boyer, Olivia, Walsh, Stephen B, Nijenhuis, Tom, Papizh, Svetlana, Yadav, Pallavi, Reynolds, Ben C, Decramer, Stéphane, Besouw, Martine, Perelló Carrascosa, Manel, La Scola, Claudio, Trepiccione, Francesco, Ariceta, Gema, Hummel, Aurélie, Dossier, Claire, Sayer, John A, Konrad, Martin, Keijzer-Veen, Mandy G, Awan, Atif, Basu, Biswanath, Chauveau, Dominique, Madariaga, Leire, Koster-Kamphuis, Linda, Furlano, Mónica, Zacchia, Miriam, Marzuillo, Pierluigi, Tse, Yincent, Dursun, Ismail, Pinarbasi, Ayse Seda, Tramma, Despoina, Hoorn, Ewout J, Gokce, Ibrahim, Nicholls, Kathleen, Eid, Loai A, Sartz, Lisa, Riordan, Michael, Hooman, Nakysa, Printza, Nikoleta, Bonny, Olivier, Arango Sancho, Pedro, Schild, Raphael, Sinha, Rajiv, Guarino, Stefano, Martinez Jimenez, Victor, Rodríguez Peña, Lidia, Belge, Hendrica, Devuyst, Olivier, Wlodkowski, Tanja, Emma, Francesco, Levtchenko, Elena, Knoers, Nine V A M, Bichet, Daniel G, Schaefer, Franz, Kleta, Robert, Bockenhauer, Detlef
Published in Nephrology, dialysis, transplantation (29.09.2023)
Published in Nephrology, dialysis, transplantation (29.09.2023)
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Validation of clinical exome sequencing in the diagnostic procedure of patients with intellectual disability in clinical practice
Ballesta-Martínez, María Juliana, Pérez-Fernández, Virginia, López-González, Vanesa, Sánchez-Soler, María José, Serrano-Antón, Ana Teresa, Rodríguez-Peña, Lidia Isolina, Barreda-Sánchez, Maria, Armengol-Dulcet, Lluís, Guillén-Navarro, Encarna
Published in Orphanet journal of rare diseases (21.07.2023)
Published in Orphanet journal of rare diseases (21.07.2023)
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Síndrome orofaciodigital tipo i: en el diagnóstico diferencial de la poliquistosis renal autosómica dominante, a próposito de 3 casos
Martínez Jiménez, Víctor, Ortuño López, Pedro Pablo, Roca Meroño, Susana, Rodríguez Peña, Lidia, Galán Carrillo, Isabel, Galbis Martínez, Liliana, Ramos Carrasco, Fernanda, Piñero Hernández, Juan Alberto, González Rodríguez, Juan David, Guillén Navarro, Encarnación
Published in Nefrología (01.03.2023)
Published in Nefrología (01.03.2023)
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Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players
Domingo-Gallego, Andrea, Pybus, Marc, Bullich, Gemma, Furlano, Mónica, Ejarque-Vila, Laia, Lorente-Grandoso, Laura, Ruiz, Patricia, Fraga, Gloria, López González, Mercedes, Piñero-Fernández, Juan Alberto, Rodríguez-Peña, Lidia, Llano-Rivas, Isabel, Sáez, Raquel, Bujons-Tur, Anna, Ariceta, Gema, Guirado, Lluis, Torra, Roser, Ars, Elisabet
Published in Nephrology, dialysis, transplantation (25.03.2022)
Published in Nephrology, dialysis, transplantation (25.03.2022)
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Journal Article
Oral-facio-digital syndrome type I: In the differential diagnosis of autosomic dominant polycystic kidney disease, about three cases
Martínez Jiménez, Víctor, Ortuño López, Pedro Pablo, Roca Meroño, Susana, Rodríguez Peña, Lidia, Galán Carrillo, Isabel, Galbis Martínez, Liliana, Ramos Carrasco, Fernanda, Piñero Hernández, Juan Alberto, González Rodríguez, Juan David, Guillén Navarro, Encarnación
Published in Nefrología (01.03.2023)
Published in Nefrología (01.03.2023)
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Journal Article
A kidney-disease gene panel allows a comprehensive genetic diagnosis of cystic and glomerular inherited kidney diseases
Bullich, Gemma, Domingo-Gallego, Andrea, Vargas, Iván, Ruiz, Patricia, Lorente-Grandoso, Laura, Furlano, Mónica, Fraga, Gloria, Madrid, Álvaro, Ariceta, Gema, Borregán, Mar, Piñero-Fernández, Juan Alberto, Rodríguez-Peña, Lidia, Ballesta-Martínez, Maria Juliana, Llano-Rivas, Isabel, Meñica, Mireia Aguirre, Ballarín, José, Torrents, David, Torra, Roser, Ars, Elisabet
Published in Kidney international (01.08.2018)
Published in Kidney international (01.08.2018)
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Journal Article
Oral-facio-digital syndrome type I: In the differential diagnosis of autosomic dominant polycystic kidney disease, about three cases
Martínez Jiménez, Víctor, Ortuño López, Pedro Pablo, Roca Meroño, Susana, Rodríguez Peña, Lidia, Galán Carrillo, Isabel, Galbis Martínez, Liliana, Ramos Carrasco, Fernanda, Piñero Hernández, Juan Alberto, González Rodríguez, Juan David, Guillén Navarro, Encarnación
Published in Nefrología (07.08.2021)
Published in Nefrología (07.08.2021)
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Comparación entre el diagnóstico prenatal y anatomopatológico de las anomalías congénitas
Rivera Martínez, Victoria Marinella, Llanusa Ruiz, Celia, Sánchez Lombana, Rita, Carrillo Bermúdez, Lourdes, Rodríguez Peña, Lidia, Nodarse Rodríguez, Alfredo, Pérez Penco, José María, Capote Arce, Raimundo, Castillo, Dagnelia, Ramiro, Juan Carlos, Oliva Rodríguez, José
Published in Revista cubana de obstetricia y ginecología (01.04.2007)
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Published in Revista cubana de obstetricia y ginecología (01.04.2007)
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