Search Results - Barreda-Bonis, Ana C

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  1. 1
    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 by Sentchordi‐Montané, Lucía, Aza‐Carmona, Miriam, Benito‐Sanz, Sara, Barreda‐ Bonis, Ana C., Sánchez‐Garre, Consuelo, Prieto‐Matos, Pablo, Ruiz‐Ocaña, Pablo, Lechuga‐Sancho, Alfonso, Carcavilla‐Urquí, Atilano, Mulero‐Collantes, Inés, Martos‐Moreno, Gabriel A., del Pozo, Angela, Vallespín, Elena, Offiah, Amaka, Parrón‐Pajares, Manuel, Dinis, Isabel, Sousa, Sergio B., Ros‐Pérez, Purificación, González‐Casado, Isabel, Heath, Karen E.

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  2. 2
    Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X

    Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X by García, Marta, Barreda-Bonis, Ana C, Jiménez, Paula, Rabanal, Ignacio, Ortiz, Arancha, Vallespín, Elena, del Pozo, Ángela, Martínez-San Millán, Juan, González-Casado, Isabel, Moreno, José C

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  3. 3
    Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis

    Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis by Hisado-Oliva, Alfonso, Garre-Vázquez, Ana I, Santaolalla-Caballero, Fabiola, Belinchón, Alberta, Barreda-Bonis, Ana C, Vasques, Gabriela A, Ramirez, Joaquin, Luzuriaga, Cristina, Carlone, Gianni, González-Casado, Isabel, Benito-Sanz, Sara, Jorge, Alexander A, Campos-Barros, Angel, Heath, Karen E

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  4. 4
    Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X

    Central Hypothyroidism and Novel Clinical Phenotypes in Hemizygous Truncation of TBL1X by García, Marta, Barreda-Bonis, Ana C, Jiménez, Paula, Rabanal, Ignacio, Ortiz, Arancha, Vallespín, Elena, Del Pozo, Ángela, Martínez-San Millán, Juan, González-Casado, Isabel, Moreno, José C

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