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Epilepsy Research|April 5, 2019
Childhood-only epilepsy with generalized tonic-clonic seizures: A well-defined epileptic syndromeRoberto Caraballo, Sebastián Silva, Lucas Beltran, et al.Clinical Genetics|August 1, 2023
Human phenotype caused by biallelic KDM4B frameshift variantSanami Takada, Sebastián Silva, Ivonne Zamorano, et al.Brain & Development|April 19, 2024
Adolescent-onset epilepsy and deterioration associated with CAD deficiency: A case reportSebastián Silva, Mónica Rosas, Benjamín Guerra, et al.Systematic and Applied Microbiology|September 29, 2024
Acidimicrobiia, the actinomycetota of coastal marine sediments: Abundance, taxonomy and genomic potentialSebastián Silva-Solar, Tomeu Viver, Yueqing Wang, et al.Clinical Genetics|May 7, 2021
COG1-congenital disorders of glycosylation: Milder presentation and reviewMarne Salazar, Noriko Miyake, Sebastián Silva, et al.Clinical Genetics|December 6, 2021
A homozygous ABHD16A variant causes a complex hereditary spastic paraplegia with developmental delay, absent speech, and characteristic faceNoriko Miyake, Sebastián Silva, Mónica Troncoso, et al.Clinical Genetics|January 7, 2025
A Unique Case of MBD5 and CCM2 Deletions Leading to a Severe Neurological Phenotype With Prolonged Status EpilepticusSebastián Silva, Viviana Venegas, Marcela Valenzuela, et al.Pharmacogenomics and Personalized Medicine|May 6, 2021
Evaluation of <i>CYP2C19</i> Gene Polymorphisms in Patients with Acid Peptic Disorders Treated with EsomeprazoleLorena Díaz-Ordóñez, Diana Ramírez-Montaño, Estephania Candelo, et al.Molecular Syndromology|October 30, 2023
Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in ChileJosé Miguel Cárdenas, Diane Vergara, Scarlet Witting, et al.Journal of Human Genetics|May 15, 2020
A novel ITPA variant causes epileptic encephalopathy with multiple-organ dysfunctionMasamune Sakamoto, Den Kouhei, Muzhirah Haniffa, et al.Pageof 2