Ayako Hattori
Nagoya, Japan
Last Updated: 09/26/2026
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Found 56 publications
Long-read RNA sequencing reveals extensive transcript isoform changes in a patient with IFAP syndrome with a recurrent intronic MBTPS2 variant.
Journal: Human genome variation
Published: December 17, 2025
Clinical and molecular profiles of patients with Xia-Gibbs syndrome: a cohort in Japan.
Journal: Brain & development
Published: October 09, 2025
Brain organoid models of SZT2-related disease reveal an overproduction of outer radial glial cells through mTORC1 activation.
Journal: Scientific reports
Published: August 31, 2025
Clinical profiles of tuberous sclerosis complex: A regionally based survey.
Journal: Brain & development
Published: May 29, 2025
Nonrandomized Allocation of Steroid Therapy in Patients With Fukuyama Congenital Muscular Dystrophy: Study Protocol for a Phase II Clinical Trial.
Journal: Neuropsychopharmacology reports
Published: February 24, 2025
Three-Dimensional Gait Analysis of School-Age Children With Angelman Syndrome: A Case-Control Study.
Three-Dimensional Gait Analysis of School-Age Children With Angelman Syndrome: A Case-Control Study.
Journal: American journal of medical genetics. Part A
Published: October 26, 2024
Clinical and genetic spectrum of patients with IRF2BPL syndrome.
Journal: Journal of human genetics
Published: August 08, 2024
Genotype-phenotype correlation over time in Angelman syndrome: Researching 134 patients.
Journal: HGG advances
Published: April 01, 2024
A Japanese boy with Bardet-Biedl syndrome caused by a novel homozygous variant in the ARL6 gene who was initially diagnosed with retinitis punctata albescens: A case report.
Journal: Medicine
Published: December 23, 2022
Correction: Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.
Journal: Journal of human genetics
Published: December 01, 2022
Angelman syndrome with mosaic paternal uniparental disomy suggestive of mitotic nondisjunction.
Journal: Journal of human genetics
Published: July 25, 2022
Last Updated: 09/26/2026