PDI - Resultado de Búsqueda

Sebastián Andrés Silva Soto

docente

Universidad San Sebastián

puerto montt, Chile

MD, PONTIFICIA UNIVERSIDAD CATOLICA DE CHILE. Chile, 2011

Docente Part Time

Universidad San Sebastian

Puerto Montt, Chile

2023 - A la fecha
Neurólogo Part Time

Hospital de Puerto Montt

Puerto Montt, Chile

2017 - A la fecha


A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive Symptoms Takada, Sanami; Chua, Ignatius; Silva, Sebastian; Tanaka, Hiroki; Pincheira, Oscar; Zuniga, Juan; Villarroel, Marcela; Hidalgo, Ximena; Melo-Tanner, Joel; Suzuki, Hidefumi; et al. Article ISI SCOPUS JOURNAL OF CLINICAL IMMUNOLOGY (2025)
A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus Silva, Sebastian; Venegas, Viviana; Valenzuela, Marcela; Retamales-Moreno, Alvaro; Munoz-Castro, Carolina; Acevedo, Hernan; Marengo, Juan-Jose; Marengo, Juan José; Okubo, Mariko; Takada, Sanami; et al. Article ISI SCOPUS CLINICAL GENETICS (2025)
Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report Silva, Sebastian; Rosas, Mónica; Guerra, Benjamín; Muñoz, Marión; Fujita, Atsushi; Sakamoto, Masamune; Matsumoto, Naomichi Article ISI SCOPUS BRAIN & DEVELOPMENT (2024)
Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile Cardenas, Jose Miguel; Vergara, Diane; Witting, Scarlet; Balut, Fernanda; Guerra, Patricio; Mesa, Jose Tomas; Silva, Sebastian; Tello, Javiera; Retamales, Alvaro; Barrios, Andres; et al. Article ISI MOLECULAR SYNDROMOLOGY (2023)
Human phenotype caused by biallelic <i>KDM4B</i> frameshift variant Takada, Sanami; Silva, Sebastian; Zamorano, Ivonne; Perez, Andrea; Iwabuchi, Chisato; Miyake, Noriko Article ISI SCOPUS CLINICAL GENETICS (2023)
A homozygous <i>ABHD16A</i> variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face Miyake, Noriko; Silva, Sebastian; Troncoso, Ledia; Okamoto, Nobuhiko; Andachi, Yoshiki; Kato, Mitsuhiro; Iwabuchi, Chisato; Hirose, Mio; Fujita, Atsushi; Uchiyama, Yuri; et al. Article ISI SCOPUS CLINICAL GENETICS (2022)
COG1-congenital disorders of glycosylation: Milder presentation and review Salazar, Marne; Miyake, Noriko; Silva, Sebastian; Solar, Benjamin; Papazoglu, Gabriela M.; Asteggiano, Carla G.; Matsumoto, Naomichi Article ISI SCOPUS CLINICAL GENETICS (2021)
A novel <i>ITPA</i> variant causes epileptic encephalopathy with multiple-organ dysfunction Sakamoto, Masamune; Kouhei, Den; Haniffa, Muzhirah; Silva, Sebastian; Troncoso, Ledia; Santander, Paola; Schonstedt, Valeria; Stecher, Ximena; Okamoto, Nobuhiko; Hamanaka, Kohei; et al. Article ISI SCOPUS JOURNAL OF HUMAN GENETICS (2020)
Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome Caraballo R. Article ISI SCOPUS EPILEPSY RESEARCH (2019)
SOFT syndrome in a patient from Chile Saida, K; Solar, B; Fujita, A; Hamanaka, K; Mitsuhashi, S; Koshimizu, E; Mizuguchi, T; Miyatake, S; Takata, A; Miyake, N Article ISI SCOPUS AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)
Lesch-Nyhan disease in two families from Chiloe Island with mutations in the HPRT1 gene Nguyen K.V.; Naviaux R.K.; Nyhan W.L. Article ISI SCOPUS NUCLEOSIDES NUCLEOTIDES NUCLEIC ACIDS (2017)


The second point mutation in PREPL: a case report and literature review Silva, S; Miyake, N Review ISI SCOPUS JOURNAL OF HUMAN GENETICS (2018)

1

Victor Faundes

Assistant Profesor

Laboratorio de Genetica y Enfermedades Metabolicas

Universidad de Chile, INTA

Santiago, Chile

12

Sebastián Silva

docente

Universidad San Sebastián

puerto montt, Chile