Sebastián Silva-Soto

9PUBLICATIONS
12CO-AUTHORS
Medical mycologyMedical bacteriologyNeurology and neuromuscular diseasesGene expression (incl. microarray and other genome-wide approaches)Epigenetics (incl. genome methylation and epigenomics)
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Publications (9)

|Jan 07, 2025
A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status Epilepticus.

Sebastián Silva, Viviana Venegas, Marcela Valenzuela

|Aug 01, 2023
Human phenotype caused by biallelic KDM4B frameshift variant.

Sanami Takada, Sebastián Silva, Ivonne Zamorano

|Dec 06, 2021
A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face.

Noriko Miyake, Sebastián Silva, Mónica Troncoso

|May 07, 2021
COG1-congenital disorders of glycosylation: Milder presentation and review.

Marne Salazar, Noriko Miyake, Sebastián Silva

|May 15, 2020
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.

Masamune Sakamoto, Den Kouhei, Muzhirah Haniffa

|Feb 28, 2018
The second point mutation in PREPL: a case report and literature review.

Sebastian Silva, Noriko Miyake, Carolina Tapia

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Frequent Collaborators

2 joint publications

Noriko Miyake

2 joint publications

Noriko Miyake

1 joint publications

Den Kouhei

1 joint publications

Nobuhiko Okamoto