Hasil Pencarian - Guiomar Perez de Nanclares

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  1. 1
    Implicaciones en pediatría del primer consenso internacional para el diagnóstico y asistencia a pacientes con pseudohipoparatiroidismo y enfermedades relacionadas

    Implicaciones en pediatría del primer consenso internacional para el diagnóstico y asistencia a pacientes con pseudohipoparatiroidismo y enfermedades relacionadas oleh Gabriel Ángel Martos-Moreno, Beatriz Lecumberri, Guiomar Pérez de Nanclares

    Diterbitkan 2019-02-01
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  2. 2
    Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders

    Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders oleh Gabriel Ángel Martos-Moreno, Beatriz Lecumberri, Guiomar Pérez de Nanclares

    Diterbitkan 2019-02-01
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  3. 3
    What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis

    What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis oleh Arrate Pereda, Intza Garin, Spanish Network for Imprinting Disorders, Guiomar Perez de Nanclares

    Diterbitkan 2018-03-01
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  4. 4
    Brachydactyly type C due to a nonsense mutation in the GDF5 gene

    Brachydactyly type C due to a nonsense mutation in the GDF5 gene oleh Lourdes Travieso-Suárez, Arrate Pereda, Jesús Pozo-Román, Guiomar Pérez de Nanclares, Jesús Argente

    Diterbitkan 2018-02-01
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  5. 5
    Braquidactilia tipo C debida a mutación de parada en el gen GDF5

    Braquidactilia tipo C debida a mutación de parada en el gen GDF5 oleh Lourdes Travieso-Suárez, Arrate Pereda, Jesús Pozo-Román, Guiomar Pérez de Nanclares, Jesús Argente

    Diterbitkan 2018-02-01
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  6. 6
    Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed?

    Incidental finding at methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA): how to proceed? oleh Africa Manero-Azua, Arrate Pereda, Isabel Llano-Rivas, Intza Garin, Guiomar Perez de Nanclares

    Diterbitkan 2023-10-01
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  7. 7
    Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2

    Frequency of de novo variants and parental mosaicism in families with inactivating PTH/PTHrP signaling disorder type 2 oleh Yerai Vado, Arrate Pereda, Africa Manero-Azua, Spanish Network for Imprinting Disorders, Guiomar Perez de Nanclares

    Diterbitkan 2023-01-01
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  8. 8
    Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene.

    Permanent neonatal diabetes caused by creation of an ectopic splice site within the INS gene. oleh Intza Garin, Guiomar Perez de Nanclares, Elena Gastaldo, Lorna W Harries, Oscar Rubio-Cabezas, Luis Castaño

    Diterbitkan 2012-01-01
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  9. 9
    Malabsorción de glucosa y galactosa. Nuevo caso en España

    Malabsorción de glucosa y galactosa. Nuevo caso en España oleh Blanca Lodoso-Torrecilla, Guiomar Perez de Nanclares, Intza Garin, Ariane Calvo-Saez, Idoya Martinez-Fernandez de Pinedo

    Diterbitkan 2020-02-01
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  10. 10
    Glucose and galactose malabsorption: A new case in Spain

    Glucose and galactose malabsorption: A new case in Spain oleh Blanca Lodoso-Torrecilla, Guiomar Perez de Nanclares, Intza Garin, Ariane Calvo-Saez, Idoya Martinez-Fernandez de Pinedo

    Diterbitkan 2020-02-01
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  11. 11
    New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

    New pathogenic variant in DLX5: New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly oleh Anna Sifre-Ruiz, Amaia Sagasta, Erika Santos, Guiomar Perez de Nanclares, Karen E. Heath, Karen E. Heath, Karen E. Heath

    Diterbitkan 2023-04-01
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  12. 12
    Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report

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

    Diterbitkan 2018-12-01
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  13. 13
    Design and Validation of a Process Based on Cationic Niosomes for Gene Delivery into Novel Urine-Derived Mesenchymal Stem Cells

    Design and Validation of a Process Based on Cationic Niosomes for Gene Delivery into Novel Urine-Derived Mesenchymal Stem Cells oleh Yerai Vado, Gustavo Puras, Melania Rosique, Cesar Martin, Jose Luis Pedraz, Shifa Jebari-Benslaiman, Marian M. de Pancorbo, Jon Zarate, Guiomar Perez de Nanclares

    Diterbitkan 2021-05-01
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  14. 14
    Nutrition recommendations for patients with pseudohypoparathyroidism

    Nutrition recommendations for patients with pseudohypoparathyroidism oleh Lorena Miñones-Suarez, Guiomar Pérez de Nanclares, Silvia Marín-del Barrio, María José Alcázar Villar, Diego de Sotto-Esteban, Eduard Mogas, Lourdes Rey Cordo, Isolina Riaño-Galán, Javier Lumbreras Fernández, Rosaura Leis

    Diterbitkan 2023-08-01
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  15. 15
    Differences in expression rather than methylation at placenta-specific imprinted loci is associated with intrauterine growth restriction

    Differences in expression rather than methylation at placenta-specific imprinted loci is associated with intrauterine growth restriction oleh Ana Monteagudo-Sánchez, Marta Sánchez-Delgado, Jose Ramon Hernandez Mora, Nuria Tubío Santamaría, Eduard Gratacós, Manel Esteller, Miguel López de Heredia, Virgina Nunes, Cecile Choux, Patricia Fauque, Guiomar Perez de Nanclares, Lauren Anton, Michal A. Elovitz, Isabel Iglesias-Platas, David Monk

    Diterbitkan 2019-02-01
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  16. 16
    A Protein Misfolding Shaking Amplification-based method for the spontaneous generation of hundreds of bona fide prions

    A Protein Misfolding Shaking Amplification-based method for the spontaneous generation of hundreds of bona fide prions oleh Hasier Eraña, Cristina Sampedro-Torres-Quevedo, Jorge M. Charco, Carlos M. Díaz-Domínguez, Francesca Peccati, Maitena San-Juan-Ansoleaga, Enric Vidal, Nuno Gonçalves-Anjo, Miguel A. Pérez-Castro, Ezequiel González-Miranda, Patricia Piñeiro, Leire Fernández-Veiga, Josu Galarza-Ahumada, Eva Fernández-Muñoz, Guiomar Perez de Nanclares, Glenn Telling, Mariví Geijo, Gonzalo Jiménez-Osés, Joaquín Castilla

    Diterbitkan 2024-03-01
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  17. 17
    Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis

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

    Diterbitkan 2020-02-01
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  18. 18
    Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes

    Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes oleh Elena G. Arias-Salgado, Eva Galvez, Lurdes Planas-Cerezales, Laura Pintado-Berninches, Elena Vallespin, Pilar Martinez, Jaime Carrillo, Laura Iarriccio, Anna Ruiz-Llobet, Albert Catalá, Isabel Badell-Serra, Luis I. Gonzalez-Granado, Andrea Martín-Nalda, Mónica Martínez-Gallo, Ana Galera-Miñarro, Carmen Rodríguez-Vigil, Mariana Bastos-Oreiro, Guiomar Perez de Nanclares, Virginia Leiro-Fernández, Maria-Luz Uria, Cristina Diaz-Heredia, Claudia Valenzuela, Sara Martín, Belén López-Muñiz, Pablo Lapunzina, Julian Sevilla, María Molina-Molina, Rosario Perona, Leandro Sastre

    Diterbitkan 2019-04-01
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  19. 19
    Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis

    Multi-locus imprinting disturbance (MLID): interim joint statement for clinical and molecular diagnosis oleh Deborah J. G. Mackay, Gabriella Gazdagh, David Monk, Frederic Brioude, Eloise Giabicani, Izabela M. Krzyzewska, Jennifer M. Kalish, Saskia M. Maas, Masayo Kagami, Jasmin Beygo, Tiina Kahre, Jair Tenorio-Castano, Laima Ambrozaitytė, Birutė Burnytė, Flavia Cerrato, Justin H. Davies, Giovanni Battista Ferrero, Olga Fjodorova, Africa Manero-Azua, Arrate Pereda, Silvia Russo, Pierpaola Tannorella, Karen I. Temple, Katrin Õunap, Andrea Riccio, Guiomar Perez de Nanclares, Eamonn R. Maher, Pablo Lapunzina, Irène Netchine, Thomas Eggermann, Jet Bliek, Zeynep Tümer

    Diterbitkan 2024-08-01
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