Seiji Watanabe

Izunokuni, Japan

Last Updated: 09/26/2026

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Found 12 publications

De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.

De novo heterozygous variants in KIF5B cause kyphomelic dysplasia.

Journal: Clinical genetics

Published: February 07, 2022

Expression of Acsm2, a kidney-specific gene, parallels the function and maturation of proximal tubular cells.

Expression of Acsm2, a kidney-specific gene, parallels the function and maturation of proximal tubular cells.

Journal: American journal of physiology. Renal physiology

Published: August 25, 2020

A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder.

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.

POLR3A variants in striatal involvement without diffuse hypomyelination.

Journal: Brain & development

Published: October 04, 2019

Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases.

Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases.

Journal: Brain & development

Published: November 26, 2018

Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.

Clinical and molecular genetic characterization of two siblings with trisomy 2p24.3-pter and monosomy 5p14.3-pter.

Journal: American journal of medical genetics. Part A

Published: November 14, 2016

A case of acute encephalitis with refractory repetitive partial seizures successfully controlled by very-high-dose phenobarbital therapy found in a boy

A case of acute encephalitis with refractory repetitive partial seizures successfully controlled by very-high-dose phenobarbital therapy found in a boy

Journal: No to hattatsu = Brain and development

Published: January 07, 2015

Crucial roles of Glu60 in human neuroglobin as a guanine nucleotide dissociation inhibitor and neuroprotective agent.

Crucial roles of Glu60 in human neuroglobin as a guanine nucleotide dissociation inhibitor and neuroprotective agent.

Journal: PloS one

Published: September 14, 2013

Functional characterization of fish neuroglobin: zebrafish neuroglobin is highly expressed in amacrine cells after optic nerve injury and can translocate into ZF4 cells.

Functional characterization of fish neuroglobin: zebrafish neuroglobin is highly expressed in amacrine cells after optic nerve injury and can translocate into ZF4 cells.

Journal: Biochimica et biophysica acta

Published: December 01, 2012

Studies on bone mineral status with bone quantitative ultrasonography in severely handicapped school children--correlations with gross motor function and dietary status

Studies on bone mineral status with bone quantitative ultrasonography in severely handicapped school children--correlations with gross motor function and dietary status

Journal: No to hattatsu = Brain and development

Published: August 01, 2012

Human neuroglobin functions as an oxidative stress-responsive sensor for neuroprotection.

Human neuroglobin functions as an oxidative stress-responsive sensor for neuroprotection.

Journal: The Journal of biological chemistry

Published: July 13, 2012

Case of infantile autism with pediatric Wernicke's encephalopathy due to severe eating disorder

Case of infantile autism with pediatric Wernicke's encephalopathy due to severe eating disorder

Journal: No to hattatsu = Brain and development

Published: January 29, 2009

Showing 1-12 of 12

Last Updated: 09/26/2026