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ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H + -ATPases is essential for brain development in humans and mice

Nature communications, 2021-04, Vol.12 (1), p.2107-2107, Article 2107

2021

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Nusinersen improved respiratory function in spinal muscular atrophy type 2

Pediatrics international, 2021-08, Vol.63 (8), p.973-974

2021

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Acute encephalopathy in children with tuberous sclerosis complex

Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.5-5, Article 5

2021

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Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2

Frontiers in neuroscience, 2023-02, Vol.17, p.1085082-1085082

2023

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Schuurs‐Hoeijmakers syndrome in two patients from Japan

American journal of medical genetics. Part A, 2019-03, Vol.179 (3), p.341-343

2019

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Effects of high temperature and shading on grain abscisic acid content and grain filling pattern in rice ( Oryza sativa L.)

Plant production science, 2018-10, Vol.21 (4), p.407-412

2018

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Morphological Change in the Biceps Brachii Muscles during Shoulder Rotation: A Cadaver Study

Applied sciences, 2021-10, Vol.11 (19), p.9262

2021

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Novel compound heterozygous LIAS mutations cause glycine encephalopathy

Journal of human genetics, 2015-10, Vol.60 (10), p.631-635

2015

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Cyclic vomiting syndrome after acute autonomic and sensory neuropathy

Pediatrics international, 2017-04, Vol.59 (4), p.503-505

2017

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Hospital‐based care utilization of children with medical complexity in Japan

Pediatrics international, 2018-07, Vol.60 (7), p.626-633

2018

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Neurochemistry in shiverer mouse depicted on MR spectroscopy

Journal of magnetic resonance imaging, 2014-06, Vol.39 (6), p.1550-1557

2014

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Abnormal brain MRI signal in 18q-syndrome not due to dysmyelination

Brain & development (Tokyo. 1979), 2012-03, Vol.34 (3), p.234-237

2012

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A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak

Human genome variation, 2017-01, Vol.4 (1), p.17033-17033, Article 17033

2017

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Level set-based topology optimization targeting micropumps employing an induced-charge electro-osmosis flow

Transactions of the JSME (in Japanese), 2016, Vol.82(835), pp.15-00406-15-00406

2016

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Surface Modification and Adhesion Mechanism of Isotactic Polypropylene with Low-Energy Electron-Beam Treatments

Langmuir, 2020-09, Vol.36 (36), p.10846-10852

2020

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Variation in origin of the long head of the biceps brachii tendon in a cadaver: A case report

Medicine (Baltimore), 2018-05, Vol.97 (20), p.e10708-e10708

2018

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Variation of insertion of the pectoralis major in a cadaveric study: A case report

Medicine (Baltimore), 2020-07, Vol.99 (31), p.e21475-e21475

2020

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Factors Associated to Return to Sport after Surgical Repair of Achilles Tendon Ruptures. A Clinical and Functional Retrospective Study

Muscles, Ligaments and Tendons Journal, 2021-07, Vol.11 (3), p.584

2021

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Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series

Pediatric neurology, 2024-08, Vol.157, p.29-38

2024

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Monozygotic twins with de novo ZIC2 gene mutations discordant for the type of holoprosencephaly

Neurology, 2016-04, Vol.86 (15), p.1456-1458

2016

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Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3

American journal of medical genetics. Part A, 2021-04, Vol.185 (4), p.1113-1119

2021

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Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study

Journal of the neurological sciences, 2024-02, Vol.457, p.122867-122867, Article 122867

2024

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First Order Perturbation-based Stochastic Homogenization Analysis for Short Fiber Reinforced Composite Materials

Journal of Solid Mechanics and Materials Engineering, 2010, Vol.4(3), pp.446-459

2010

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Hierarchical Stochastic Homogenization Analysis of a Short-Fiber Reinforced Composite Material Considering a Non-Uniform Microscopic Random Variation

TRANSACTIONS OF THE JAPAN SOCIETY OF MECHANICAL ENGINEERS Series A, 2011, Vol.77 (783), p.1945-1955

2011

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Study on Surge Characteristics and Internal Flow of a Centrifugal Compressor at Low Pressure Ratio

Turbomachinery, 2015, Vol.43(2), pp.83-89

2015

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ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H + -ATPases is essential for brain development in humans and mice

Nusinersen improved respiratory function in spinal muscular atrophy type 2

Acute encephalopathy in children with tuberous sclerosis complex

Severe pediatric acute encephalopathy syndromes related to SARS-CoV-2

Schuurs‐Hoeijmakers syndrome in two patients from Japan

Effects of high temperature and shading on grain abscisic acid content and grain filling pattern in rice ( Oryza sativa L.)

Morphological Change in the Biceps Brachii Muscles during Shoulder Rotation: A Cadaver Study

Novel compound heterozygous LIAS mutations cause glycine encephalopathy

Cyclic vomiting syndrome after acute autonomic and sensory neuropathy

Hospital‐based care utilization of children with medical complexity in Japan

Neurochemistry in shiverer mouse depicted on MR spectroscopy

Abnormal brain MRI signal in 18q-syndrome not due to dysmyelination

A novel BBS10 mutation identified in a patient with Bardet-Biedl syndrome with a violent emotional outbreak

Level set-based topology optimization targeting micropumps employing an induced-charge electro-osmosis flow

Surface Modification and Adhesion Mechanism of Isotactic Polypropylene with Low-Energy Electron-Beam Treatments

Variation in origin of the long head of the biceps brachii tendon in a cadaver: A case report

Variation of insertion of the pectoralis major in a cadaveric study: A case report

Factors Associated to Return to Sport after Surgical Repair of Achilles Tendon Ruptures. A Clinical and Functional Retrospective Study

Infantile Epileptic Spasms Syndrome Complicated by Leigh Syndrome and Leigh-Like Syndrome: A Retrospective, Nationwide, Multicenter Case Series

Monozygotic twins with de novo ZIC2 gene mutations discordant for the type of holoprosencephaly

Variants in KIF2A cause broad clinical presentation; the computational structural analysis of a novel variant in a patient with a cortical dysplasia, complex, with other brain malformations 3

Clinical characteristics of SARS-CoV-2-associated encephalopathy in children: Nationwide epidemiological study

First Order Perturbation-based Stochastic Homogenization Analysis for Short Fiber Reinforced Composite Materials

Hierarchical Stochastic Homogenization Analysis of a Short-Fiber Reinforced Composite Material Considering a Non-Uniform Microscopic Random Variation

Study on Surge Characteristics and Internal Flow of a Centrifugal Compressor at Low Pressure Ratio

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