Tomoko Matsubayashi
Shizuoka, Japan
Last Updated: 09/26/2026
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Found 10 publications
Genetic diagnosis of sibling cases initiated by identification of outlier gene expression using transcriptome analysis of urine-derived cells.
Journal: Journal of human genetics
Published: February 18, 2026
CDKL5 deficiency causes epileptic seizures independent of cellular mosaicism.
Journal: Journal of the neurological sciences
Published: July 20, 2022
Novel ALG12 variants and hydronephrosis in siblings with impaired N-glycosylation.
Journal: Brain & development
Published: March 30, 2021
Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.
Journal: Clinical genetics
Published: January 20, 2021
A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder.
Journal: Molecular genetics & genomic medicine
Published: December 11, 2019
POLR3A variants in striatal involvement without diffuse hypomyelination.
Journal: Brain & development
Published: October 04, 2019
Recurrent posterior reversible encephalopathy due to vasospasm and cerebral hypoperfusionin in acute leukemia: a case report
Journal: No to hattatsu = Brain and development
Published: January 01, 2016
Childhood-Onset Multifocal Motor Neuropathy With Immunoglobulin M Antibodies to Gangliosides GM1 and GM2: A Case Report and Review of the Literature.
Journal: Pediatric neurology
Published: December 31, 2015
Novel RAB3GAP1 compound heterozygous mutations in Japanese siblings with Warburg Micro syndrome.
Journal: Brain & development
Published: July 31, 2015
A multicenter, open-label extension study of velaglucerase alfa in Japanese patients with Gaucher disease: Results after a cumulative treatment period of 24months.
Journal: Blood cells, molecules & diseases
Published: June 30, 2015
Showing 1-10 of 10
Last Updated: 09/26/2026