檢索結果 - Purificación Ros‐Pérez

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    Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

    Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature 由 Lucia Sentchordi, Miriam Aza‐Carmona, Sara Benito‐Sanz, Ana Coral Barreda Bonis, Consuelo Sánchez‐Garre, Pablo Prieto‐Matos, Pablo Ruiz‐Ocaña, Alfonso M. Lechuga‐Sancho, Atilano Carcavilla, Inés Mulero‐Collantes, Gabriel Ángel Martos‐Moreno, Ángela del Pozo, Elena Vallespín, Amaka C Offiah, Manuel Parrón, Isabel Dinis, Sérgio B. Sousa, Purificación Ros‐Pérez, I. González Casado, Karen E. Heath

    出版 2018
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    Clinical and Molecular Description of 16 Families With Heterozygous <i>IHH</i> Variants

    Clinical and Molecular Description of 16 Families With Heterozygous <i>IHH</i> Variants 由 Lucia Sentchordi, Sara Benito‐Sanz, Miriam Aza‐Carmona, Arrate Pereda, Manuel Parrón, Carolina de la Torre, Gabriela A. Vasques, Mariana F.A. Funari, André Travessa, Patrícia Dias, Larisa Suárez-Ortega, Jesús González-Buitrago, Nancy Elizabeth Portillo-Najera, Isabel Llano‐Rivas, María Martín-Frías, Joaquín Ramírez-Fernández, Jaime Sánchez del Pozo, L. Suárez Garzón, Gabriel Ángel Martos‐Moreno, Cristina Alfaro-Iznaola, Inés Mulero‐Collantes, Pablo Ruiz‐Ocaña, Paula Casano, A Portela, Lorea Ruiz-Pérez, Ángela del Pozo, Elena Vallespín, Mario Solís, Antônio Marcondes Lerário, I. González Casado, Purificación Ros‐Pérez, Guiomar Pérez de Nanclares, Alexander A.L. Jorge, Karen E. Heath

    出版 2020
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