Ayumi Matsumoto
3PUBLICATIONS
8CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (3)
Sort by Publication Date:
|Nov 22, 2025
Compound heterozygous variants of CACNA1H change channel properties and contribute to intractable epilepsy with myoclonic-atonic seizures.Ayumi Matsumoto, Go Kasuya, Suvd Tumurbaatar
|May 30, 2025
Partial monosomy 18p and 21q due to a paternal reciprocal translocation leading to holoprosencephaly.Hiroko Wakabayashi, Ayumi Matsumoto, Sakiko Komori
|Jun 27, 2022
A case of congenital fiber-type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation.Ayumi Matsumoto, Hidetoshi Tsuda, Sadahiro Furui
Pageof 1
