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Carolina Narváez, Patricio Lacaux, Camila Cortés, Carla Manterola, Ximena Carrasco
260-264
Phenotypic variability of GLUT1 deficiency: when is necessary to suspect?
April 22, 2020
https://doi.org/10.32641/andespediatr.v91i2.1185
Paola Santander, María José Pedemonte, Mónica Troncoso, Carolina Yáñez, María Alejandra Cárdenas, Karen Guajardo, Carolina Silva, Macarena Neves, Claudia López, Paola Lagos, Andrés Barrios, Ledia Troncoso
879-887
Children and adolescents with intellectual disabilities studied with genetic tests according to their clinical phenotype
December 28, 2021
https://doi.org/10.32641/andespediatr.v92i6.2866
Víctor Faundes, Rosa Pardo, Francisco Cammarata-Scalisi, Pablo Alarcón, Guillermo Lay-Son, Esteban San Martín
309-315
Consensus of the Genetics Branch of the Chilean Society of Pediatrics on the prioritization of people with Down syndrome and rare diseases for vaccination against SARS-CoV-2
May 4, 2021
https://doi.org/10.32641/andespediatr.v92i2.3716
Lucia Rivas, Óscar Blanco, Cristian Torreira, Alfredo Repáraz, Cristina Melcón, Alfonso Amado
529-533
Pontocerebellar hypoplasia secondary to CASK gene deletion. Case Report
September 4, 2017
Viviana Venegas Silva, Elisa García Venegas, M. Gabriela Repetto Lisboa, Eva Barroso Ramos, Pablo Lapunzina Badia
761-766
Pathogenic variant in the PCDH19 gene in a patient with epilepsy and cognitive disability
October 14, 2020
https://doi.org/10.32641/andespediatr.v91i5.1490
Marco Cascella, Maria Rosaria Muzio
283-286
Early onset intellectual disability in chromosome 22q11.2 deletion syndrome
August 6, 2015
Carolina Aron W., Geraldinne Rauch L., Felipe Benavides G., M. Gabriela Repetto L.
152-156
Rett Syndrome: MECP2 gene molecular analysis in Chilean patients
April 10, 2019
https://doi.org/10.32641/andespediatr.v90i2.724
Marcelo Pino, Fernando Muñoz, Matías Henríquez, Cristian Luarte Rocha, Rossana Gomez Campos, Marco Cossio Bolaños, Luis Felipe Castelli de Campos
541-547
Body adiposity and abdominal muscle resistance in young people with Down syndrome
August 23, 2021
https://doi.org/10.32641/andespediatr.v92i4.1520
Marco Cossio-Bolaños, Rubén Vidal-Espinoza, Juan Lagos-Luciano, Rossana Gómez-Campos
18-24
Nutritional status in children with intellectual disabilities based on anthropometric profile
February 6, 2015
Raúl Escobar H., Alicia Núñez F., Ángela Henao V., Jaime Cerda L., Alfonso Cox M., Marcela Miranda M.
388-394
Psychometric, motor and functional description in children with cerebral palsy
August 28, 2011

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