De novo absence status epilepticus associated with the SLC6A1 gene in a pediatric patient by Caraballo, Roberto H., Chacón, Santiago, Touzon, Maria Sol, Loos, Mariana, Juanes, Matías

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Five New Cases of 46,XX Aromatase Deficiency: Clinical Follow-Up From Birth to Puberty, a Novel Mutation, and a Founder Effect by Marino, Roxana, Perez Garrido, Natalia, Costanzo, Mariana, Guercio, Gabriela, Juanes, Matías, Rocco, Carlos, Ramirez, Pablo, Warman, Diana M, Ciaccio, Marta, Pena, Gladys, Feyling, José García, Miras, Mirta, Rivarola, Marco A, Belgorosky, Alicia, Saraco, Nora

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THU157 Epigenetic Regulation Of Genes Involved In The Signaling Cascade Of The GH Axis - IGF1 And Insulin. Implication In Children Postnatal Growth by Zoff, Luciana, Garcia, Francisco, Aschettino, Giovanna, Veneruzzo, Gabriel, Mattone, María Celeste, Garrido, Natalia Perez, Juanes, Matías, Saraco, Nora Isabel, Alonso, Cristina, Alonso, Cristina, Guercio, Gabriela, Belgorosky, Alicia, Baquedano, Maria Sonia

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CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases by Darra, Francesca, Monchelato, Manuela, Loos, Mariana, Juanes, Matias, Bernardina, Bernardo Dalla, Valenzuela, Gabriela Reyes, Gallo, Adolfo, Caraballo, Roberto

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Non‐epileptic stimulus‐sensitive myoclonus in a newborn with developmental and epileptic encephalopathy associated with the SCN8A gene by Calligaris, Silvana, Juanes, Matias, Touzon, Maria S., Altamirano, Lorena, Loos, Mariana, Reyes Valenzuela, Gabriela, Albino, Vinicio, Armeno, Marisa, Caraballo, Roberto

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Molecular diagnosis of epileptic encephalopathy of the first year of life applying a customized gene panel in a group of Argentinean patients by Juanes, Matias, Veneruzzo, Gabriel, Loos, Mariana, Reyes, Gabriela, Araoz, Hilda Veronica, Garcia, Francisco Martin, Gomez, Gimena, Alonso, Cristina Noemi, Chertkoff, Lilien P., Caraballo, Roberto

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Next Generation Sequencing-Based Mutational Profile of Therapy-Related AML and De Novo AML: Results from a Single Pediatric Institution in Argentina by Rubio, Patricia Laura, Felice, Maria Sara, Juanes, Matias, Veneruzzo, Gabriel, Garcia, Francisco Martin, Digiorge, Jorge Alberto, Ducatelli, Maria Eugenia, Medina, Adriana, Pujana, Matias, Guitter, Myriam Ruth, Rossi, Jorge Gabriel, Alonso, Cristina Noemi

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Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment by Juanes, Matias, Guercio, Gabriela, Marino, Roxana, Berensztein, Esperanza, Warman, Diana Mónica, Ciaccio, Marta, Gil, Silvia, Bailez, Marcela, Rivarola, Marco A., Belgorosky, Alicia

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SAT-069 Advantages of Next Generation Sequencing (NGS) in Hypophosphatemic Disorders Diagnosis. First Case of SLC9A3R1 Gene Pathogenic Variant Detected in a Pediatric Patient by Ramirez, Biochemist, Pablo, Palma, Isabel Di, Viterbo, Gisela, Perez-Garrido, Biochemist, Natalia Isabel, Pujana, Biochemist, Matias, Juanes, Matias, Belgorosky, Alicia, Marino, Roxana Marcela

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De novo absence status epilepticus associated with the SLC6A1 gene in a pediatric patient by Caraballo, Roberto H, Chacón, Santiago, Touzon, Maria Sol, Loos, Mariana, Juanes, Matías

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Presence of GH1 and absence of GHRHR gene mutations in a large cohort of Argentinian patients with severe short stature and isolated GH deficiency by Juanes, Matias, Marino, Roxana, Ciaccio, Marta, Di Palma, Isabel, Ramirez, Pablo, Warman, Diana M., De Dona, Valeria, Chaler, Eduardo, Maceiras, Mercedes, Rivarola, Marco A., Belgorosky, Alicia

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Exhibición digital mínima e interactiva con CollectionBuilder by Isasi, Jennifer

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