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Hisahide Nishio

Kobe University

216

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3069

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Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan.

2021 International Journal of Neonatal Screening
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Neonatal Buccal Cell Collection: A Non-Invasive Strategy to Provide A Reliable Source of DNA for High Resolution Melting Analysis

2020 Malaysian Journal of Paediatrics and Child Health
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[Care of patients with Duchenne and Becker muscular dystrophy during COVID-19 pandemic]

2020
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Assessment of Spinal Muscular Atrophy Carrier Status by Determining SMN1 Copy Number Using Dried Blood Spots

2020 International Journal of Neonatal Screening
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Determining the association between polymorphisms of the DAT1 and DRD4 genes with attention deficit hyperactivity disorder in children from Java Island

2020 Neurology International
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Phosphoethanolamine Elevation in Plasma of Spinal Muscular Atrophy Type 1 Patients.

2020 The Kobe journal of the medical sciences
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[Care of patients with Duchenne and Becker muscular dystrophy during COVID-19 pandemic]

2020
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A Novel System for Spinal Muscular Atrophy Screening in Newborns: Japanese Pilot Study

2019 International Journal of Neonatal Screening
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In silico and in vitro analyses of the pathological relevance of the R258H mutation of hepatocyte nuclear factor 4α identified in maturity‐onset diabetes of the young type 1

2019 Journal of Diabetes Investigation
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Nusinersen helps restore walking ability in childhood spinal muscular atrophy

2019 Pediatrics International
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