| Properties of two apyrases from Solanum tuberosum AM Kettlun, L Uribe, V Calvo, S Silva, J Rivera, M Mancilla, M Antonieta, ... Phytochemistry 21 (3), 551-558, 1982 | 82 | 1982 |
| Genetic testing to inform epilepsy treatment management from an international study of clinical practice D McKnight, A Morales, KE Hatchell, SL Bristow, JL Bonkowsky, MS Perry, ... JAMA neurology 79 (12), 1267-1276, 2022 | 49 | 2022 |
| A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction M Sakamoto, D Kouhei, M Haniffa, S Silva, M Troncoso, P Santander, ... Journal of human genetics 65 (9), 751-757, 2020 | 15 | 2020 |
| Childhood-only epilepsy with generalized tonic-clonic seizures: a well-defined epileptic syndrome R Caraballo, S Silva, L Beltran, A Calvo, R Caballero Epilepsy Research 153, 28-33, 2019 | 14 | 2019 |
| SOFT syndrome in a patient from Chile K Saida, S Silva, B Solar, A Fujita, K Hamanaka, S Mitsuhashi, ... American Journal of Medical Genetics Part A 179 (3), 338-340, 2019 | 14 | 2019 |
| The second point mutation in PREPL: a case report and literature review S Silva, N Miyake, C Tapia, N Matsumoto Journal of Human Genetics 63 (5), 677-681, 2018 | 12 | 2018 |
| CHEMICAL MODIFICATION OF AROMATIC, ACID AND BASIC-AMINO-ACIDS OF TWO ISOENZYMES OF APYRASE FROM SOLANUM-TUBEROSUM AM Kettlun, L Uribe, S Silva, J Rivera, MA Valenzuela, ... Archivos de Biologia y Medicina Experimentales 14 (2), 171-175, 1981 | 6 | 1981 |
| A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face N Miyake, S Silva, M Troncoso, N Okamoto, Y Andachi, M Kato, ... Clinical Genetics 101 (3), 359-363, 2022 | 5 | 2022 |
| COG1‐congenital disorders of glycosylation: milder presentation and review M Salazar, N Miyake, S Silva, B Solar, GM Papazoglu, CG Asteggiano, ... Clinical Genetics 100 (3), 318-323, 2021 | 4 | 2021 |
| Lesch-Nyhan disease in two families from Chiloé Island with mutations in the HPRT1 gene KV Nguyen, S Silva, M Troncoso, RK Naviaux, WL Nyhan Nucleosides, Nucleotides and Nucleic Acids 36 (7), 452-462, 2017 | 4 | 2017 |
| Human phenotype caused by biallelic KDM4B frameshift variant S Takada, S Silva, I Zamorano, A Pérez, C Iwabuchi, N Miyake Clinical Genetics 105 (1), 72-76, 2024 | 3 | 2024 |
| Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile JM Cárdenas, D Vergara, S Witting, F Balut, P Guerra, JT Mesa, S Silva, ... Molecular Syndromology 14 (5), 416-427, 2023 | 2 | 2023 |
| Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report S Silva, M Rosas, B Guerra, M Muñoz, A Fujita, M Sakamoto, ... Brain and Development 46 (7), 250-253, 2024 | | 2024 |
| Asociación del resultado auditivo final, en pacientes con hipoacusia súbita, a la respuesta a glucocorticoides in vitro. K García, S Silva, JC Maass Revista de otorrinolaringología y cirugía de cabeza y cuello 84 (1), 24-34, 2024 | | 2024 |
| The Immunoregulatory and Regenerative Potential of Activated Human Stem Cell Secretome Mitigates Acute-on-Chronic Liver Failure in a Rat Model B Cuadra, V Silva, YL Huang, Y Diaz, C Rivas, C Molina, V Simon, ... International Journal of Molecular Sciences 25 (4), 2073, 2024 | | 2024 |
| Use of Gentamicin in rats as a model of damage in inner ear hair cell regeneration studies. S Silva, J Pardo, M Kukuljan, JC Maass Contacto Científico Clínica Alemana 7 (4), 2017 | | 2017 |
| Phenotypic description of Rett syndrome patients with MECP2 gene mutation P Santander, M Troncoso, J Cardenas, L Troncoso, S Silva, A Barrios, ... Journal of the Neurological Sciences 357, e443, 2015 | | 2015 |
| RETT SYNDROME: CLINICAL PHENOTYPES ASSOCIATED TO MUTATIONS IN MECP2 GENE P Santander, M Troncoso, L Troncoso, S Silva, A Barrios, P Parra, R Díaz ICNC 2014, 2014 | | 2014 |
| MODIFICATION OF ARGINYL RESIDUES OF 2 ISOAPYRASES AM KETTLUN, MA VALENZUELA, S SILVA, M MANCILLA ARCHIVOS DE BIOLOGIA Y MEDICINA EXPERIMENTALES 14 (2), 201-201, 1981 | | 1981 |
| Available online at www. sciencedirect. com R Ossmann, D Thaller, G Nussbaum, F Pühretmair, C Veigl, C Weiß, ... | | |
