Yohane Miyata
Tokyo, Japan
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 15 publications
Completely resolved structural variants by optical genome mapping with adaptive sampling from CNV discovery.
Journal: NPJ genomic medicine
Published: August 14, 2025
Low excretor glutaric acidemia type 1 with transient lesions in the basal ganglia.
Journal: Brain & development
Published: January 20, 2025
Ocular Manifestations of Peters Plus-Like Syndrome in 8q21.11 Microdeletion Syndrome.
Journal: Cornea
Published: September 01, 2022
Fatal X-linked lymphoproliferative disease type 1-associated limbic encephalitis with positive anti-alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor antibody.
Journal: Brain & development
Published: April 14, 2022
A Japanese case of multisystem inflammatory syndrome in children.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: March 12, 2021
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Journal: Journal of medical genetics
Published: February 03, 2020
Clinical and genetic characteristics of patients with Doose syndrome.
Journal: Epilepsia open
Published: January 23, 2020
Assessment and Rating of Motor Cerebellar Ataxias With the Kinect v2 Depth Sensor: Extending Our Appraisal.
Journal: Frontiers in neurology
Published: September 10, 2019
Long-Term Evaluation of Low-Dose Betamethasone for Ataxia Telangiectasia.
Journal: Pediatric neurology
Published: November 07, 2018
Periventricular small cystic lesions in a patient with Coffin-Lowry syndrome who exhibited a novel mutation in the RPS6KA3 gene.
Journal: Brain & development
Published: December 28, 2017
Last Updated: 09/26/2026