Hasil Pencarian - Antonio Gonzalez-Meneses

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  1. 1
    Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII

    Open-label phase 1/2 study of vestronidase alfa for mucopolysaccharidosis VII oleh Simon Jones, Mahmut Coker, Antonio González-Meneses López, Jennifer Sniadecki, Jill Mayhew, Pauline Hensman, Agnieszka Jurecka

    Diterbitkan 2021-09-01
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  2. 2
    Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13

    Atypical Association of Angelman Syndrome and Klinefelter Syndrome in a Boy with 47,XXY Karyotype and Deletion 15q11.2-q13 oleh Javier Sánchez, Ana Peciña, Olga Alonso-Luengo, Antonio González-Meneses, Rocío Vázquez, Guillermo Antiñolo, Salud Borrego

    Diterbitkan 2014-01-01
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  3. 3
    Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort

    Description of the molecular and clinical characteristics of the mucopolysaccharidosis type VII Iberian cohort oleh Antonio Gónzalez-Meneses, Mercè Pineda, Anabela Bandeira, Patrícia Janeiro, María Ángeles Ruiz, Luisa Diogo, Ramón Cancho-Candela

    Diterbitkan 2021-10-01
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  4. 4
    VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation

    VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation oleh María Heredia-Torrejón, Raúl Montañez, Antonio González-Meneses, Atilano Carcavilla, Miguel A. Medina, Alfonso M. Lechuga-Sancho

    Diterbitkan 2024-09-01
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  5. 5
    Contributions of PHOX2B in the pathogenesis of Hirschsprung disease.

    Contributions of PHOX2B in the pathogenesis of Hirschsprung disease. oleh Raquel María Fernández, Yves Mathieu, Berta Luzón-Toro, Rocío Núñez-Torres, Antonio González-Meneses, Guillermo Antiñolo, Jeanne Amiel, Salud Borrego

    Diterbitkan 2013-01-01
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  6. 6
    P189: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a novel, longitudinal, multicenter disease monitoring program

    P189: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a novel, longitudinal, multicenter disease monitoring program oleh Roberto Giugliani, Antonio Gonzalez-Meneses, Christina Grant, Maurizio Scarpa, Angela Sun, Raymond Wang, Joel Hetzer, Deborah Marsden, J. Lawrence Merritt, II

    Diterbitkan 2023-01-01
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  7. 7
    Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.

    Mutation prevalence of cerebral cavernous malformation genes in Spanish patients. oleh Rufino Mondéjar, Francisca Solano, Rocío Rubio, Mercedes Delgado, Angel Pérez-Sempere, Antonio González-Meneses, Teresa Vendrell, Guillermo Izquierdo, Amalia Martinez-Mir, Miguel Lucas

    Diterbitkan 2014-01-01
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  8. 8
    Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants

    Genotype–phenotype correlation of 17 cases of Pompe disease in Spanish patients and identification of 4 novel GAA variants oleh Paula Hernández-Arévalo, José D. Santotoribio, Rocío Delarosa-Rodríguez, Antonio González-Meneses, Salvador García-Morillo, Pilar Jiménez-Arriscado, Juan M. Guerrero, Hada C. Macher

    Diterbitkan 2021-05-01
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  9. 9
    P261: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP)

    P261: Vestronidase alfa for the treatment of mucopolysaccharidosis VII (MPS VII): Updated results from a longitudinal, multicenter disease monitoring program (DMP) oleh Roberto Giugliani, Antonio Gonzalez-Meneses, Christina Grant, Maurizio Scarpa, Angela Sun, Raymond Wang, Barbara Burton, Ans van der Ploeg, Esmeralda Martins, Consuelo Durand, Brigitte Chabrol, Joel Hetzer, Deborah Marsden, J. Lawrence Merritt, II

    Diterbitkan 2024-01-01
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  10. 10
    Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease monitoring program

    Disease characteristics, effectiveness, and safety of vestronidase alfa for the treatment of patients with mucopolysaccharidosis VII in a novel, longitudinal, multicenter disease m... oleh Roberto Giugliani, Antonio Gonzalez-Meneses, Maurizio Scarpa, Barbara Burton, Raymond Wang, Esmeralda Martins, Esmeralda Oussoren, Julia B. Hennermann, Brigitte Chabrol, Christina L. Grant, Angela Sun, Consuelo Durand, Joel Hetzer, Betsy Malkus, Deborah Marsden, J. Lawrence Merritt II

    Diterbitkan 2024-05-01
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  11. 11
    Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy

    Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy oleh Juliana Ribeiro-Constante, Alba Tristán-Noguero, Alba Tristán-Noguero, Fernando Francisco Martínez Calvo, Salvador Ibañez-Mico, José Luis Peña Segura, José Miguel Ramos-Fernández, María del Carmen Moyano Chicano, Rafael Camino León, Víctor Soto Insuga, Elena González Alguacil, Carlos Valera Dávila, Alberto Fernández-Jaén, Laura Plans, Ana Camacho, Nuria Visa-Reñé, María del Pilar Martin-Tamayo Blázquez, Fernando Paredes-Carmona, Itxaso Marti-Carrera, Aránzazu Hernández-Fabián, Meritxell Tomas Davi, Merce Casadesus Sanchez, Laura Cuesta Herraiz, Patricia Fuentes Pita, Teresa Bermejo Gonzalez, Mar O'Callaghan, Federico Felipe Iglesias Santa Polonia, María Rosario Cazorla, María Teresa Ferrando Lucas, Antonio González-Meneses, Júlia Sala-Coromina, Alfons Macaya, Amaia Lasa-Aranzasti, Anna Ma Cueto-González, Francisca Valera Párraga, Jaume Campistol Plana, Mercedes Serrano, Xenia Alonso, Diego Del Castillo-Berges, Marc Schwartz-Palleja, Marc Schwartz-Palleja, Marc Schwartz-Palleja, Sofía Illescas, Alia Ramírez Camacho, Oscar Sans Capdevila, Angeles García-Cazorla, Àlex Bayés, Itziar Alonso-Colmenero

    Diterbitkan 2024-03-01
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