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Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus

Molecular genetics and metabolism reports, 2023-12, Vol.37, p.101019, Article 101019

2023

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Genetic Analysis of SCN11A , SCN10A , and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria

International journal of molecular sciences, 2024-07, Vol.25 (13), p.6832

2024

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Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency

Brain & development (Tokyo. 1979), 2021-05, Vol.43 (5), p.657-660

2021

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A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly

Tokyo Women's Medical University Journal, 2020/12/25, Vol.4, pp.85-89

2020

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A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting

Human genome variation, 2021-05, Vol.8 (1), p.16-16, Article 16

2021

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Two cases of childhood narcolepsy mimicking epileptic seizures in video-EEG/EMG

Brain & development (Tokyo. 1979), 2018-11, Vol.40 (10), p.939-942

2018

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Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis

Human genome variation, 2022-12, Vol.9 (1), p.43-43, Article 43

2022

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An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU

Brain & development (Tokyo. 1979), 2018-10, Vol.40 (9), p.813-818

2018

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A Preliminary Experiment to Investigate the Effects of Blue Backgrounds on a Tablet Screen for Elderly People

Procedia computer science, 2015, Vol.60, p.1490-1496

2015

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Role of dual leucine zipper-bearing kinase (DLK/MUK/ZPK) in axonal growth

Neuroscience research, 2010, Vol.66 (1), p.37-45

2010

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A Preliminary Examination of Background-Color Effects on the Scores of Computer-Based English Grammar Tests Using Near-Infrared Spectroscopy

Knowledge-Based and Intelligent Information and Engineering Systems, p.31-39

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Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement

American journal of medical genetics. Part A, 2013-12, Vol.161A (12), p.3049-3056

2013

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Visualization of Effects of Aroma Oil Massages Using NIRS

Procedia computer science, 2016, Vol.96, p.1535-1542

2016

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A Preliminary Examination of Effect of Massage and Aroma Oil Massage in Foot Care Nursing

Procedia computer science, 2015, Vol.60, p.1524-1531

2015

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Development of catecholamine and cortisol stress responses in zebrafish

Molecular genetics and metabolism reports, 2014-01, Vol.1 (C), p.373-377

2014

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Analysis of Effects of Aroma Foot Care Using Functional Near-infrared Spectroscopy

Procedia computer science, 2014, Vol.35, p.1539-1546

2014

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Development of a support system for learning foot massage movement skills using IoT technology

Procedia computer science, 2022, Vol.207, p.3430-3438

2022

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The correlation between brain MRI imaging and biochemical and molecular findings in Japanese female patients with Fabry disease

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S52-S53

2019

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Evaluation of long-term effects by ERT for Fabry disease biochemical and EM pictures

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S75-S75

2019

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Effects of immunosuppressants to two Japanese transplanted patients with Fabry disease

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S43-S43

2018

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The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome

Molecular genetics and metabolism, 2017-03, Vol.120 (3), p.173-179

2017

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Citrine Deficiency Diagnosed at Pre-school Medical Check-up because of Failure to Thrive: A Case Report

Journal of Tokyo Women's Medical University, 2021/04/25, Vol.91(2), pp.136-142

2021

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Successful Transition to Home Medical Care by Combination of High Flow Nasal Cannula and Multidisciplinary Team Approach in a Patient with Trisomy 21

Journal of Tokyo Women's Medical University, 2021/04/25, Vol.91(2), pp.148-152

2021

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A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly

Tokyo Women's Medical University Journal, 2020, pp.2020003

2020

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Development of web-based learning materials to support assisting-skill acquisition using 3DCG

Procedia computer science, 2018, Vol.126, p.1710-1719

2018

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Clinical features of two Japanese siblings of neuronal ceroid lipofuscinosis type 1 (CLN1) complicated with TypeⅡ diabetes mellitus

Genetic Analysis of SCN11A , SCN10A , and SCN9A in Familial Episodic Pain Syndrome (FEPS) in Japan and Proposal of Clinical Diagnostic Criteria

Unexpected elevation in valproic acid concentration and agranulocytosis in a patient with short-chain acyl-CoA dehydrogenase deficiency

A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly

A recurrent de novo ZSWIM6 variant in a Japanese patient with severe neurodevelopmental delay and frequent vomiting

Two cases of childhood narcolepsy mimicking epileptic seizures in video-EEG/EMG

Novel BCL11B truncation variant in a patient with developmental delay, distinctive features, and early craniosynostosis

An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU

A Preliminary Experiment to Investigate the Effects of Blue Backgrounds on a Tablet Screen for Elderly People

Role of dual leucine zipper-bearing kinase (DLK/MUK/ZPK) in axonal growth

A Preliminary Examination of Background-Color Effects on the Scores of Computer-Based English Grammar Tests Using Near-Infrared Spectroscopy

Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement

Visualization of Effects of Aroma Oil Massages Using NIRS

A Preliminary Examination of Effect of Massage and Aroma Oil Massage in Foot Care Nursing

Development of catecholamine and cortisol stress responses in zebrafish

Analysis of Effects of Aroma Foot Care Using Functional Near-infrared Spectroscopy

Development of a support system for learning foot massage movement skills using IoT technology

The correlation between brain MRI imaging and biochemical and molecular findings in Japanese female patients with Fabry disease

Evaluation of long-term effects by ERT for Fabry disease biochemical and EM pictures

Effects of immunosuppressants to two Japanese transplanted patients with Fabry disease

The severe clinical phenotype for a heterozygous Fabry female patient correlates to the methylation of non-mutated allele associated with chromosome 10q26 deletion syndrome

Citrine Deficiency Diagnosed at Pre-school Medical Check-up because of Failure to Thrive: A Case Report

Successful Transition to Home Medical Care by Combination of High Flow Nasal Cannula and Multidisciplinary Team Approach in a Patient with Trisomy 21

A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly

Development of web-based learning materials to support assisting-skill acquisition using 3DCG

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