Výsledky vyhledávání - Pereda, Arrate

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis Autor Pereda, Arrate, Garin, Intza, Perez de Nanclares, Guiomar

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Novel Variant in PLAG1 in a Familial Case with Silver–Russell Syndrome Suspicion Autor Vado, Yerai, Pereda, Arrate, Llano-Rivas, Isabel, Gorria-Redondo, Nerea, Díez, Ignacio, Perez de Nanclares, Guiomar

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Brachydactyly E: isolated or as a feature of a syndrome Autor Pereda, Arrate, Garin, Intza, Garcia-Barcina, Maria, Gener, Blanca, Beristain, Elena, Ibañez, Ane Miren, Perez de Nanclares, Guiomar

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Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report Autor Vado, Yerai, Errea-Dorronsoro, Javier, Llano-Rivas, Isabel, Gorria, Nerea, Pereda, Arrate, Gener, Blanca, Garcia-Naveda, Laura, Perez de Nanclares, Guiomar

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Sporadic Creutzfeldt–Jakob disease with extremely long 14‐year survival period Autor Kortazar‐Zubizarreta, Izaro, Ruiz‐Onandi, Rebeca, Pereda, Arrate, Vado, Yerai, González‐Chinchon, Gonzalo, Eraña, Hasier, Perez de Nanclares, Guiomar, Castilla, Joaquín

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Description of the first Spanish case of Gerstmann–Sträussler–Scheinker disease with A117V variant: clinical, histopathological and biochemical characterization Autor Eraña, Hasier, San Millán, Beatriz, Díaz-Domínguez, Carlos M., Charco, Jorge M., Rodríguez, Rosa, Viéitez, Irene, Pereda, Arrate, Yañez, Rosa, Geijo, Mariví, Navarro, Carmen, Perez de Nanclares, Guiomar, Teijeira, Susana, Castilla, Joaquín

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Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis Autor Aguilera-Albesa, Sergio, de la Hoz, Ana Belén, Ibarluzea, Nekane, Ordóñez-Castillo, Andrés R., Busto-Crespo, Olivia, Villate, Olatz, Ibiricu-Yanguas, María Asunción, Yoldi-Petri, María E., García de Gurtubay, Iñaki, Perez de Nanclares, Guiomar, Pereda, Arrate, Tejada, María Isabel

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Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences Autor Eggermann, Thomas, Yapici, Elzem, Bliek, Jet, Pereda, Arrate, Begemann, Matthias, Russo, Silvia, Tannorella, Pierpaola, Calzari, Luciano, de Nanclares, Guiomar Perez, Lombardi, Paola, Temple, I. Karen, Mackay, Deborah, Riccio, Andrea, Kagami, Masayo, Ogata, Tsutomu, Lapunzina, Pablo, Monk, David, Maher, Eamonn R., Tümer, Zeynep

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Genetic and epigenetic defects at the GNAS locus lead to distinct patterns of skeletal growth but similar early-onset obesity() Autor Hanna, Patrick, Grybek, Virginie, de Nanclares, Guiomar Perez, Tran, Léa C., de Sanctis, Luisa, Elli, Francesca, Errea, Javier, Francou, Bruno, Kamenicky, Peter, Linglart, Léa, Pereda, Arrate, Rothenbuhler, Anya, Tessaris, Daniele, Thiele, Susanne, Usardi, Alessia, Shoemaker, Ashley H., Kottler, Marie-Laure, Jüppner, Harald, Mantovani, Giovanna, Linglart, Agnès

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Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus im... Autor Pignata, Laura, Cecere, Francesco, Verma, Ankit, Hay Mele, Bruno, Monticelli, Maria, Acurzio, Basilia, Giaccari, Carlo, Sparago, Angela, Hernandez Mora, Jose Ramon, Monteagudo-Sánchez, Ana, Esteller, Manel, Pereda, Arrate, Tenorio-Castano, Jair, Palumbo, Orazio, Carella, Massimo, Prontera, Paolo, Piscopo, Carmelo, Accadia, Maria, Lapunzina, Pablo, Cubellis, Maria Vittoria, de Nanclares, Guiomar Perez, Monk, David, Riccio, Andrea, Cerrato, Flavia

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Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients Autor Mantovani, Giovanna, Bastepe, Murat, Monk, David, de Sanctis, Luisa, Thiele, Susanne, Ahmed, S. Faisal, Bufo, Roberto, Choplin, Timothée, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thomas, Elli, Francesca M., Ramirez, Aurora Garcia, Germain-Lee, Emily L., Groussin, Lionel, Hamdy, Neveen A.T., Hanna, Patrick, Hiort, Olaf, Jüppner, Harald, Kamenický, Peter, Knight, Nina, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A., Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Ángel, Minagawa, Manasori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lars, Rodado, Rebeca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H., Shore, Eileen M., Silve, Caroline, Turan, Serap, Woods, Philip, Zillikens, M. Carola, de Nanclares, Guiomar Perez, Linglart, Agnès

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Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement Autor Mantovani, Giovanna, Bastepe, Murat, Monk, David, de Sanctis, Luisa, Thiele, Susanne, Usardi, Alessia, Ahmed, S. Faisal, Bufo, Roberto, Choplin, Timothée, De Filippo, Gianpaolo, Devernois, Guillemette, Eggermann, Thomas, Elli, Francesca M., Freson, Kathleen, García Ramirez, Aurora, Germain-Lee, Emily L., Groussin, Lionel, Hamdy, Neveen, Hanna, Patrick, Hiort, Olaf, Jüppner, Harald, Kamenický, Peter, Knight, Nina, Kottler, Marie-Laure, Le Norcy, Elvire, Lecumberri, Beatriz, Levine, Michael A., Mäkitie, Outi, Martin, Regina, Martos-Moreno, Gabriel Ángel, Minagawa, Masanori, Murray, Philip, Pereda, Arrate, Pignolo, Robert, Rejnmark, Lars, Rodado, Rebecca, Rothenbuhler, Anya, Saraff, Vrinda, Shoemaker, Ashley H., Shore, Eileen M., Silve, Caroline, Turan, Serap, Woods, Philip, Zillikens, M. Carola, Perez de Nanclares, Guiomar, Linglart, Agnès

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