Ikumi Hori
Nagoya, Japan
Last Updated: 09/26/2026
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Found 29 publications
Characteristics of neonatal-onset and presumed neonatal arterial ischemic stroke.
Journal: Brain & development
Published: October 09, 2024
Identifying pathogenic variants in rare pediatric neurological diseases using exome sequencing.
Journal: Scientific reports
Published: June 12, 2024
Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients.
Journal: HGG advances
Published: April 01, 2024
Risks of ACTH therapy for West syndrome following BCG vaccination.
Journal: Epilepsy & behavior : E&B
Published: January 31, 2021
Frequent epileptic apnoea in a patient with Pitt-Hopkins syndrome.
Journal: Epileptic disorders : international epilepsy journal with videotape
Published: October 23, 2020
Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant.
Journal: Brain & development
Published: October 22, 2020
De novo 2q36.3q37.1 deletion encompassing TRIP12 and NPPC yields distinct phenotypes.
Journal: Human genome variation
Published: March 29, 2020
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.
Journal: Orphanet journal of rare diseases
Published: June 25, 2019
A novel CUL4B splice site variant in a young male exhibiting less pronounced features.
Journal: Human genome variation
Published: June 03, 2019
Author Correction: A missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria, and cleft palate.
Journal: Journal of human genetics
Published: April 28, 2019
Last Updated: 09/26/2026