Shino Shimada
Tokyo, Japan
Last Updated: 09/26/2026
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Found 47 publications
Retrospective evaluation of caregiver-administered buccal midazolam for pediatric status epilepticus in a regional core hospital in Japan.
Journal: Epilepsy research
Published: March 27, 2026
Case Report: A case of ruptured renal epithelioid angiomyolipoma leading to the diagnosis of TSC2/PKD1 contiguous gene syndrome.
Journal: Frontiers in pediatrics
Published: November 28, 2025
Clinical significance of low-frequency mosaic thresholds (45,X/46,XX/47,XXX) in adulthood: A case report.
Journal: Taiwanese journal of obstetrics & gynecology
Published: November 03, 2025
Siblings of FBXL4-related mitochondrial DNA depletion syndrome, leading to fatal fulminant pneumonia.
Journal: Molecular genetics and metabolism reports
Published: August 27, 2025
Cortical hypertrophy of the contralateral hemisphere after hemispherotomy in children with Sturge-Weber syndrome: A longitudinal volumetric study.
Journal: Epilepsia
Published: August 22, 2025
Neurodevelopmental milestone acquisition following early hemispherotomy in Sturge-Weber syndrome.
Journal: Seizure
Published: June 10, 2025
A case of Dravet syndrome with a novel SCN1A gross deletion involving the promoter region.
Journal: Human genome variation
Published: June 08, 2025
A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication.
Journal: Human genome variation
Published: August 30, 2024
A case report of hydrocephalus due to diffuse villous hyperplasia of the choroid plexus: surgical treatment by combination a flexible videoscope with a rigid endoscope.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: May 17, 2023
Clinical, biochemical and genetic characteristics of MOGS-CDG: a rare congenital disorder of glycosylation.
Journal: Journal of medical genetics
Published: October 21, 2021
Functional analysis of a de novo variant in the neurodevelopment and generalized epilepsy disease gene NBEA.
Journal: Molecular genetics and metabolism
Published: March 01, 2021
Mutations in GET4 disrupt the transmembrane domain recognition complex pathway.
Journal: Journal of inherited metabolic disease
Published: January 28, 2020
Last Updated: 09/26/2026