Esnaola Azcoiti, María

PRODUCCION CIENTÍFICO TECNOLÓGICA

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Artículo 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

Castro, Sebastián; Brunello, Franco Gino ; Sanso, Elsa Gabriela ; Scaglia, Paula Alejandra ; Esnaola Azcoiti, María; Izquierdo, Agustin ; Villegas, Florencia; Bergadá, Ignacio ; Ropelato, Maria Gabriela ; Marti, Marcelo Adrian ; Rey, Rodolfo Alberto ; Grinspon, Romina (Frontiers Media, 2022-06)
Evento Genomic diagnosis implementation in a pediatric hospital: Preliminary results

Scaglia, Paula Alejandra ; Esnaola Azcoiti, María; Casali, Bárbara María de Los Angeles M; Valinotto, Laura Elena ; Rosenbrock, Solange; Villegas, Florencia; Arguelles, Celeste; Berenstein, Ariel José ; Izquierdo, Agustín; Sanguineti, Nora María ; Braslavsky, Debora Giselle ; Szlago, Marina; Fernandez, Maria del Carmen ; Armando, Romina Gabriela ; Brunello, Franco Gino ; Sanso, Gabriela; Bergadá, Ignacio ; Arberas, Claudia Liliana; Marti, Marcelo Adrian ; Ropelato, Maria Gabriela ; Rey, Rodolfo Alberto (Fundación Revista Medicina, 2019)
Artículo 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

Correa Brito, Lourdes Magdalena ; Grinspon, Romina ; Lopez Dacal, Jimena Claudia; Scaglia, Paula Alejandra ; Esnaola Azcoiti, María; Izquierdo, Agustin ; Ropelato, Maria Gabriela ; Rey, Rodolfo Alberto (MDPI, 2023-07)
Artículo Long-Term Follow-up of STAT5B Deficiency in Three Argentinian Patients: Clinical and Immunological Features

Bezrodnik, Liliana ; Di Giovanni, Daniela; Caldirola, María Soledad; Esnaola Azcoiti, María; Torgerson, Troy; Gaillard, María Isabel (Springer/Plenum Publishers, 2015-03)
Artículo Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations

Gutiérrez, Mariana Lilián ; Scaglia, Paula Alejandra ; Keselman, Ana Claudia; Martucci, Lucia Camila ; Karabatas, Liliana Margarita ; Domene, Sabina ; Martin, Ayelen ; Pennisi, Patricia Alejandra ; Blanco, Miguel; Sanguineti, Nora María ; Bezrodnik, Liliana ; Di Giovanni, Daniela; Caldirola, Maria Soledad ; Esnaola Azcoiti, María; Gaillard, María Isabel; Denson, Lee A.; Zhang, Kejian; Husami, Ammar; Yayah Jones, Nana Hawa; Hwa, Vivian; Revale, Santiago; Vazquez, Martin Pablo ; Jasper, Hector Guillermo ; Kumar, Ashish; Domene, Horacio Mario (Elsevier Ireland, 2018-09)

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