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List of works by Takuya Hiraide

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

scientific article published on 23 June 2019

A de novo TOP2B variant associated with global developmental delay and autism spectrum disorder

scientific article published on 17 January 2020

De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences

scientific article published on 24 May 2019

Identification of a deep intronic POLR3A variant causing inclusion of a pseudoexon derived from an Alu element in Pol III-related leukodystrophy

scientific article published on 01 June 2020

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