Sebastian A. Silva
Puerto Montt, LL, Chile
Last Updated: 09/26/2026
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Found 15 publications
Loss-of-function variants in MARK2 cause neurodevelopmental disorder.
Journal: HGG advances
Published: November 19, 2025
Kidney injury after paediatric cardiac surgery. Different predictors to be used: pRIFLE, KDIGO and pPROCK. No answer as yet.
Journal: European journal of anaesthesiology
Published: December 20, 2024
Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.
Journal: Genome medicine
Published: November 08, 2024
A Novel AGR2 Variant Causing Aberrant Monomer-Dimer Equilibrium Leading to Severe Respiratory and Digestive Symptoms.
Journal: Journal of clinical immunology
Published: March 14, 2024
Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case report.
Journal: Brain & development
Published: February 22, 2024
Human phenotype caused by biallelic KDM4B frameshift variant.
Journal: Clinical genetics
Published: June 05, 2023
A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic face.
Journal: Clinical genetics
Published: September 04, 2021
COG1-congenital disorders of glycosylation: Milder presentation and review.
Journal: Clinical genetics
Published: March 29, 2021
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunction.
Journal: Journal of human genetics
Published: January 17, 2020
Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndrome.
Journal: Epilepsy research
Published: January 06, 2019
Last Updated: 09/26/2026