INITIAL CLINICAL PRESENTATION IN CASES OF INBORN ERRORS OF METABOLISM IN A REFERENCE CHILDREN’S HOSPITAL: STILL A DIAGNOSTIC CHALLENGE

por Romão, Andressa, Simon, Priscila Endlich Alves, Góes, José Eduardo Coutinho, Pinto, Louise Lapagessede Camargo, Giugliani, Roberto, de Luca, Gisele Rozone, Carvalho, Francisca Ligia Cirilo
Publicado 2017

Etiology of intellectual disability in individuals from special education schools in the south of Brazil

por Oliveira, Luan Freitas, Chaves, Tiago Fernando, Baretto, Nathacha, de Luca, Gisele Rozone, Barbato, Ingrid Tremel, Barbato Filho, Jorge Humberto, Ocampos, Maristela, Maris, Angelica Francesca
Publicado 2020

Long contiguous stretches of homozygosity detected by chromosomal microarrays (CMA) in patients with neurodevelopmental disorders in the South of Brazil

por Chaves, Tiago Fernando, Oliveira, Luan Freitas, Ocampos, Maristela, Barbato, Ingrid Tremel, de Luca, Gisele Rozone, Barbato Filho, Jorge Humbeto, de Camargo Pinto, Louise Lapagesse, Bernardi, Pricila, Maris, Angelica Francesca
Publicado 2019

Copy Number Variations in a Cohort of 420 Individuals with Neurodevelopmental Disorders From the South of Brazil

por Chaves, Tiago Fernando, Baretto, Nathacha, Oliveira, Luan Freitas de, Ocampos, Maristela, Barbato, Ingrid Tremel, Anselmi, Mayara, De Luca, Gisele Rozone, Barbato Filho, Jorge Humberto, Pinto, Louise Lapagesse de Camargo, Bernardi, Pricila, Maris, Angelica Francesca
Publicado 2019