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Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders

Brain & development (Tokyo. 1979), 2019-10, Vol.41 (9), p.776-782

2019

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Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study

Molecular genetics and metabolism reports, 2021-12, Vol.29, p.100816-100816, Article 100816

2021

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Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations

The Journal of pediatrics, 2022-05, Vol.244, p.38-48.e1

2022

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Autophagy in the Central Nervous System and Effects of Chloroquine in Mucopolysaccharidosis Type II Mice

International journal of molecular sciences, 2019-11, Vol.20 (23), p.5829

2019

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Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion

Human genome variation, 2019-10, Vol.6 (1), p.47-47, Article 47

2019

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Case of hand, foot and mouth disease with vesicular Koebner phenomenon on the ankles caused by Coxsackievirus A6 in an adult

Journal of dermatology, 2019-06, Vol.46 (6), p.e191-e192

2019

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Potential Usefulness of Lifetime Globotriaosylsphingosine Exposure at Diagnosis and Baseline Modified Disease Severity Score in Early-Diagnosed Patients With Fabry Disease

Curēus (Palo Alto, CA), 2024-05

2024

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Gap Junction Beta-2 p.Val84Met Can Cause Autosomal Dominant Syndromic Hearing Loss With Keratoderma

Curēus (Palo Alto, CA), 2024-02

2024

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A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly

Intractable & Rare Diseases Research, 2017/08/31, Vol.6(3), pp.177-182

2017

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Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report

JIMD reports, 2021-11, Vol.62 (1), p.9-14

2021

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Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linked Alport Syndrome: A Case Report

Case reports in nephrology and dialysis, 2024-01, Vol.14 (1), p.1-9

2024

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Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort

Current issues in molecular biology, 2021-06, Vol.43 (1), p.389-404

2021

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A Cooperative Control Algorithm for Multiple SVRs Using Correlation of Measurement Data of Distribution Line

Electrical engineering in Japan, 2018-01, Vol.202 (1), p.3-10

2018

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Dyschromatosis symmetrica hereditaria complicated by intracranial hemangiomas and Parry-Romberg syndrome

Journal of dermatology, 2016-09, Vol.43 (9), p.1106-1108

2016

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Oculofaciocardiodental syndrome caused by a novel BCOR variant

Human genome variation, 2023-06, Vol.10 (1), p.18-4, Article 18

2023

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A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities

Human genome variation, 2017-03, Vol.4 (1), p.17007-17007, Article 17007

2017

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A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease

Brain & development (Tokyo. 1979), 2014-02, Vol.36 (2), p.159-162

2014

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Intracerebral cell transplantation therapy for murine GM1 gangliosidosis

Brain & development (Tokyo. 1979), 2009-11, Vol.31 (10), p.717-724

2009

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Twelve-year-old girl with intracranial epidural abscess and sphenoiditis

Brain & development (Tokyo. 1979), 2014-04, Vol.36 (4), p.359-361

2014

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Humoral immune responses against norovirus infections of children

Journal of medical virology, 2007-08, Vol.79 (8), p.1187-1193

2007

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Relationship between Severity of Aseptic Meningitis and Cerebrospinal Fluid Cytokine Levels

Osaka City medical journal, 2015-12, Vol.61 (2), p.63

2015

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Possible critical region associated with late‐onset spasms in 17p13.1‐p13.2 microdeletion syndrome: a report of two new cases and review of the literature

Epileptic disorders, 2022-06, Vol.24 (3), p.567-571

2022

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Possible critical region associated with late-onset spasms in 17p13.1-p13.2 microdeletion syndrome: a report of two new cases and review of the literature

Epileptic disorders, 2022-06, Vol.24 (3), p.1

2022

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Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

Journal of human genetics, 2022-09, Vol.67 (9), p.505-513

2022

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Disconnection surgery to cure or palliate medically intractable epileptic spasms: a retrospective study

Journal of neurosurgery. Pediatrics, 2022-06, Vol.29 (6), p.693-699

2022

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Genomic backgrounds of Japanese patients with undiagnosed neurodevelopmental disorders

Real world long-term outcomes in patients with mucopolysaccharidosis type II: A retrospective cohort study

Genome Analysis in Sick Neonates and Infants: High-yield Phenotypes and Contribution of Small Copy Number Variations

Autophagy in the Central Nervous System and Effects of Chloroquine in Mucopolysaccharidosis Type II Mice

Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion

Case of hand, foot and mouth disease with vesicular Koebner phenomenon on the ankles caused by Coxsackievirus A6 in an adult

Potential Usefulness of Lifetime Globotriaosylsphingosine Exposure at Diagnosis and Baseline Modified Disease Severity Score in Early-Diagnosed Patients With Fabry Disease

Gap Junction Beta-2 p.Val84Met Can Cause Autosomal Dominant Syndromic Hearing Loss With Keratoderma

A novel CASK mutation identified in siblings exhibiting developmental disorders with/without microcephaly

Divergent developmental trajectories in two siblings with neuropathic mucopolysaccharidosis type II (Hunter syndrome) receiving conventional and novel enzyme replacement therapies: A case report

Novel Digenic Variants in COL4A4 and COL4A5 Causing X-Linked Alport Syndrome: A Case Report

Plasma Globotriaosylsphingosine and α-Galactosidase A Activity as a Combined Screening Biomarker for Fabry Disease in a Large Japanese Cohort

A Cooperative Control Algorithm for Multiple SVRs Using Correlation of Measurement Data of Distribution Line

Dyschromatosis symmetrica hereditaria complicated by intracranial hemangiomas and Parry-Romberg syndrome

Oculofaciocardiodental syndrome caused by a novel BCOR variant

A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities

A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease

Intracerebral cell transplantation therapy for murine GM1 gangliosidosis

Twelve-year-old girl with intracranial epidural abscess and sphenoiditis

Humoral immune responses against norovirus infections of children

Relationship between Severity of Aseptic Meningitis and Cerebrospinal Fluid Cytokine Levels

Possible critical region associated with late‐onset spasms in 17p13.1‐p13.2 microdeletion syndrome: a report of two new cases and review of the literature

Possible critical region associated with late-onset spasms in 17p13.1-p13.2 microdeletion syndrome: a report of two new cases and review of the literature

Six years’ accomplishment of the Initiative on Rare and Undiagnosed Diseases: nationwide project in Japan to discover causes, mechanisms, and cures

Disconnection surgery to cure or palliate medically intractable epileptic spasms: a retrospective study

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