Showing 1 - 5 results of 5 for search 'Maria Gabriela Ropelato', query time: 0.03s 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
    Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Patient with a 46,XY Disorder of Sex Development

    Identification of a Novel Variant in Myelin Regulatory Growth Factor by Next-Generation Sequencing Led to the Detection of a Clinically Inapparent Congenital Heart Defect in a Pati... by Lourdes Correa Brito, Romina P. Grinspon, Jimena Lopez Dacal, Paula Scaglia, María Esnaola Azcoiti, Agustín Izquierdo, María Gabriela Ropelato, Rodolfo A. Rey

    Published 2023-07-01
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  3. 3
    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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  4. 4
    Testicular dysfunction at diagnosis in children and teenagers with haematopoietic malignancies improves after initial chemotherapy

    Testicular dysfunction at diagnosis in children and teenagers with haematopoietic malignancies improves after initial chemotherapy by Jimena Lopez Dacal, Silvina Prada, Lourdes Correa Brito, Maria Gabriela Ropelato, Maria Gabriela Ballerini, Maria Eugenia Rodriguez, Marcela E. Gutiérrez, Marcela Soria, Lorena Morán, Cristina Ferraro, Patricia Bedecarrás, Guillermo Drelichman, Luis Aversa, Ignacio Bergadá, Rodolfo A. Rey, Romina P. Grinspon

    Published 2023-05-01
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  5. 5
    Development and Validation of a Prediction Rule for Growth Hormone Deficiency Without Need for Pharmacological Stimulation Tests in Children With Risk Factors

    Development and Validation of a Prediction Rule for Growth Hormone Deficiency Without Need for Pharmacological Stimulation Tests in Children With Risk Factors by Florencia Clément, Romina P. Grinspon, Daniel Yankelevich, Daniel Yankelevich, Sabrina Martín Benítez, María Carolina De La Ossa Salgado, María Gabriela Ropelato, María Gabriela Ballerini, Ana C. Keselman, Débora Braslavsky, Patricia Pennisi, Ignacio Bergadá, Gabriela P. Finkielstain, Gabriela P. Finkielstain, Rodolfo A. Rey

    Published 2021-02-01
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