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Kei Ohashi

Nagoya City University

24

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281

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A case series from a single family of familial retinal arteriolar tortuosity with common history of sudden visual loss

2021 American Journal of Ophthalmology Case Reports
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Comprehensive Genetic Analysis of Non-syndromic Autism Spectrum Disorder in Clinical Settings.

2021 Journal of Autism and Developmental Disorders
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Peripheral nerves are involved in hypomyelinating leukodystrophy-3 caused by a homozygous AIMP1 variant.

2021 Brain & Development
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Impact of School Closures due to COVID-19 on Children with Neurodevelopmental Disorders in Japan.

2021 Journal of Autism and Developmental Disorders
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A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome

2019 Human genome variation
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Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood

2018 Brain & Development
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Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder

2018 Cell Reports
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A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly

2017 BMC Medical Genetics
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Combined genetic analyses can achieve efficient diagnostic yields for subjects with Alagille syndrome and incomplete Alagille syndrome

2017 Acta Paediatrica
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Molecular Genetic Dissection and Neonatal/Infantile Intrahepatic Cholestasis Using Targeted Next-Generation Sequencing.

2016 The Journal of Pediatrics
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Citations (56)