Hasil Pencarian - Clara Serra-Juhé

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  1. 1
    Current Status of Genetic Counselling for Rare Diseases in Spain

    Current Status of Genetic Counselling for Rare Diseases in Spain oleh Sara Álvaro-Sánchez, Irene Abreu-Rodríguez, Anna Abulí, Clara Serra-Juhe, Maria del Carmen Garrido-Navas

    Diterbitkan 2021-12-01
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  2. 2
    Contribution of rare copy number variants to isolated human malformations.

    Contribution of rare copy number variants to isolated human malformations. oleh Clara Serra-Juhé, Benjamín Rodríguez-Santiago, Ivon Cuscó, Teresa Vendrell, Núria Camats, Núria Torán, Luis A Pérez-Jurado

    Diterbitkan 2012-01-01
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  3. 3
    A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding.

    A novel melanocortin-4 receptor mutation MC4R-P272L associated with severe obesity has increased propensity to be ubiquitinated in the ER in the face of correct folding. oleh Susana Granell, Clara Serra-Juhé, Gabriel Á Martos-Moreno, Francisca Díaz, Luis A Pérez-Jurado, Giulia Baldini, Jesús Argente

    Diterbitkan 2012-01-01
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  4. 4
    Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants.

    Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants. oleh Clara Serra-Juhé, Gabriel Á Martos-Moreno, Francesc Bou de Pieri, Raquel Flores, Juan R González, Benjamín Rodríguez-Santiago, Jesús Argente, Luis A Pérez-Jurado

    Diterbitkan 2017-05-01
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  5. 5
    Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases

    Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY‐associated diseases oleh Chiara Cavestro, Francesca Morra, Andrea Legati, Marco D'Amato, Alessia Nasca, Arcangela Iuso, Naomi Lubarr, Jennifer L. Morrison, Patricia G. Wheeler, Clara Serra‐Juhé, Benjamín Rodríguez‐Santiago, Eulalia Turón‐Viñas, Clement Prouteau, Magalie Barth, Susan J. Hayflick, Daniele Ghezzi, Valeria Tiranti, Ivano Di Meo

    Diterbitkan 2024-06-01
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  6. 6
    Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability

    Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability oleh Andrew Dauber, María T Muñoz‐Calvo, Vicente Barrios, Horacio M Domené, Soren Kloverpris, Clara Serra‐Juhé, Vardhini Desikan, Jesús Pozo, Radhika Muzumdar, Gabriel Á Martos‐Moreno, Federico Hawkins, Héctor G Jasper, Cheryl A Conover, Jan Frystyk, Shoshana Yakar, Vivian Hwa, Julie A Chowen, Claus Oxvig, Ron G Rosenfeld, Luis A Pérez‐Jurado, Jesús Argente

    Diterbitkan 2016-02-01
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