Juanes, Matías Hernan

PRODUCCION CIENTÍFICO TECNOLÓGICA

Mostrando ítems 1-11 de 11

Artículo CDKL5-associated developmental and epileptic encephalopathy: A long-term, longitudinal electroclinical study of 22 cases

Darra, Francesca; Monchelato, Manuela; Loos, Mariana; Juanes, Matías Hernan ; Dalla Bernardina, Bernardo; Reyes Valenzuela, Gabriela; Gallo, Adolfo; Caraballo, Roberto Horacio (Elsevier Science, 2023-02)
Artículo Clinical and genetic study of developmental and epileptic encephalopathy in Argentinean pediatric patients

Juanes, Matías Hernan ; Loos, Mariana; Reyes, Gabriela; Veneruzzo, Gabriel Martin; Garcia, Francisco Martin; Aschettino, Gioavana; Calligaris, Silvana Debora; Martín, María Eugenia; Foncuberta, María Eugenia; Alonso, Cristina Noemí; Caraballo, Roberto Horacio (Medicina (Buenos Aires), 2022-11)
Artículo De novo absence status epilepticus associated with the SLC6A1 gene in a pediatric patient

Caraballo, Roberto Horacio ; Chacon, Santiago; Touzon, María Sol ; Loos, Mariana; Juanes, Matías Hernan (John Wiley & Sons, 2024-10)
Artículo Dravet Syndrome: An Electroclinical, Genetic, Treatment, and Outcome Study of 35 Patients in Argentina

Caraballo, Roberto Horacio ; Veneruzzo, Gabriel Martin; Loos, Mariana; Reyes, Gabriela; Juanes, Matías Hernan ; Martín, María Eugenia; Melgarejo Duarte, Sergio; Touzón, María Sol; Alonso, Cristina (Thieme Group, 2024-05)
Artículo Expanding the Phenotypic Spectrum of GRIN1 Encephalopathy: Two Pediatric Patients with Atypical Findings

Loos, Mariana; Juanes, Matías Hernan ; Gallo, Adolfo; Martín, María Eugenia; Reyes, Gabriela; Veneruzzo, Gabriel Martin; Rugilo, Carlos; Alonso, Cristina; Caraballo, Roberto Horacio (Thieme Group, 2024-06)
Artículo Five new cases of 46, XX aromatase deficiency: Clinical follow-up from birth to puberty, a novel mutation, and a founder effect

Marino, Roxana Marcela; Garrido, Natalia Perez; Costanzo, Mariana; Guercio, Gabriela Viviana ; Juanes, Matías Hernan ; Rocco, Carlos Alberto ; Ramirez, Pablo; Warman, Diana M.; Ciaccio, Marta; Pena, Gladys; Feyling, José García; Miras, Mirta Beatriz; Rivarola, Marco Aurelio ; Belgorosky, Alicia ; Saraco, Nora Isabel (Endocrine Society, 2015-02)
Artículo Molecular diagnosis of epileptic encephalopathy of the first year of life applying a customized gene panel in a group of Argentinean patients

Juanes, Matías Hernan ; Veneruzzo, Gabriel Martin; Loos, Mariana; Reyes, Gabriela Leonor; Araoz, Hilda Veronica ; Garcia, Francisco Martin; Gomez, Gimena ; Alonso, Cristina Noemí; Chertkoff, Lilien Patricia ; Caraballo, Roberto (Academic Press Inc Elsevier Science, 2020-10)
Artículo Non‐epileptic stimulus‐sensitive myoclonus in a newborn with developmental and epileptic encephalopathy associated with the SCN8A gene

Calligaris, Silvana Debora; Juanes, Matías Hernan ; Touzon, María Sol ; Altamirano, Lorena; Loos, Mariana; Reyes Valenzuela, Gabriela; Albino, Vinicio; Armeno, Marisa Laura; Caraballo, Roberto Horacio (Wiley, 2024-10)
Artículo Three novel IGF1R mutations in microcephalic patients with prenatal and postnatal growth impairment

Juanes, Matías Hernan ; Guercio, Gabriela Viviana ; Marino, Roxana Marcela; Berensztein, Esperanza Beatriz; Warman, Diana Mónica; Ciaccio, Marta; Gil, Silvia; Bailez, Marcela; Rivarola, Marco Aurelio ; Belgorosky, Alicia (Wiley Blackwell Publishing, Inc, 2014-07)
Artículo Two familial cases of infantile epileptic spasms syndrome associated with UDP‐glucose‐6‐dehydrogenase deficiency

Suyo, C.; Reyes Valenzuela, Gabriela; Melgarejo, S.; Loos, M.; Juanes, Matías Hernan ; Touzon, María Sol ; Angarita, G.; Mesa, M.; Alonso, C.; Caraballo, Roberto Horacio (Wiley, 2024-10)
Artículo Variable Phenotypes in the Same Patient with PRRT2-Associated Disorders

Loos, Mariana; Touzon, María Sol ; Reyes, Gabriela; Juanes, Matías Hernan ; Caraballo, Roberto Horacio (Thieme Group, 2024-05)

Mostrando ítems 1-11 de 11