Showing 1 - 3 results of 3 for search 'María Esnaola Azcoiti', query time: 0.04s Refine Results
  1. 1
    Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen–Kolk syndrome

    Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen–Kolk syndrome by Lourdes Correa Brito, Ana Keselman, Florencia Villegas, Paula Scaglia, Paula Scaglia, María Esnaola Azcoiti, María Esnaola Azcoiti, Sebastián Castro, Nora Sanguineti, Agustín Izquierdo, Agustín Izquierdo, Marianela Maier, Ignacio Bergadá, Claudia Arberas, Rodolfo A. Rey, Rodolfo A. Rey, Rodolfo A. Rey, María Gabriela Ropelato, María Gabriela Ropelato

    Published 2024-03-01
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  2. 2
    Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report

    Delayed Puberty Due to a WDR11 Truncation at Its N-Terminal Domain Leading to a Mild Form of Ciliopathy Presenting With Dissociated Central Hypogonadism: Case Report by Sebastián Castro, Franco G. Brunello, Franco G. Brunello, Gabriela Sansó, Gabriela Sansó, Paula Scaglia, Paula Scaglia, María Esnaola Azcoiti, María Esnaola Azcoiti, Agustín Izquierdo, Agustín Izquierdo, Florencia Villegas, Ignacio Bergadá, María Gabriela Ropelato, María Gabriela Ropelato, Marcelo A. Martí, Rodolfo A. Rey, Rodolfo A. Rey, Rodolfo A. Rey, Romina P. Grinspon

    Published 2022-06-01
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  3. 3
    Extreme Phenotypic Variability of ACTG1‐Related Disorders in Hearing Loss

    Extreme Phenotypic Variability of ACTG1‐Related Disorders in Hearing Loss by Maria T. Bernardi, Memoona Ramzan, Laura Calderon, Franco Salvatore, Maria Agustina De Rosa, Stephanie Bivona, Romina Armando, Natalia Vazquez, Maria Esnaola Azcoiti, Marcelo A. Marti, Claudia Arberas, Maria Gabriela Ropelato, Silvina Olha, Byron L. Lam, Fred F. Telischi, Mustafa Tekin, Katherina Walz

    Published 2024-12-01
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