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List of works by Atsuo Kikuchi

Construction and integration of three de novo Japanese human genome assemblies toward a population-specific reference

scientific article published on 11 January 2021

Correspondence on “Clinical Characterization of Gastroenteritis-Related Seizures in Children: Impact of Fever and Serum Sodium Levels” ⬇️

scientific article published on August 14, 2013

Genomic analysis identifies masqueraders of full-term cerebral palsy.

scientific article

Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice

scientific article published on 26 February 2020

Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment.

scientific article

Novel <i>POLE</i> mutations identified in patients with IMAGE-I syndrome cause aberrant subcellular localisation and protein degradation in the nucleus

scientific article published in 2022

Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial-RNA-import protein PNPase cause delayed myelination

scientific article

Recurrent de novo MAPK8IP3 variants cause neurological phenotypes

scientific article published on 25 April 2019

Reply to: A genomic cause of cerebral palsy should not change the clinical classification

scientific article published on 22 June 2018

Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13 ⬇️

scientific article published on January 8, 2012

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