List of works - Hiroshi Doi - Paulina

List of works by Hiroshi Doi

Biallelic expansion in RFC1 as a rare cause of Parkinson's disease

scientific article published on 10 January 2022

De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy

scientific article published on 01 November 2020

GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy

scientific article published on 22 October 2019

Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease

scientific article published on 22 July 2019

Long-read sequencing identifies the pathogenic nucleotide repeat expansion in RFC1 in a Japanese case of CANVAS

scientific article published on 18 February 2020

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