Hasil Pencarian - Arrate Pereda

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  1. 1
    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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  2. 2
    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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  3. 3
    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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  4. 4
    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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  5. 5
    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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  6. 6
    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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  7. 7
    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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  8. 8
    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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