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List of works by Naomi Tsuchida

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

scientific article published on 01 November 2020

Detection of copy number variations in epilepsy using exome data.

scientific article published on 22 September 2017

Dysfunction of TRIM21 in interferon signature of systemic lupus erythematosus.

scientific article published in February 2018

GRIN2D variants in three cases of developmental and epileptic encephalopathy

article

Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders

scientific article published on 8 February 2018

Musculoskeletal ultrasonography delineates ankle symptoms in rheumatoid arthritis

scientific article published on 01 September 2016

Non-IgG4-related Multifocal Fibrosclerosis.

scientific article published in September 2016

Novel CLTC variants cause new brain and kidney phenotypes

scientific article published on 07 July 2021

Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.

scientific article published on 30 May 2017

On-demand ultrasonography assessment in the most symptomatic joint supports the 8-joint score system for management of rheumatoid arthritis patients.

scientific article

The predictive prognostic factors for polymyositis/dermatomyositis-associated interstitial lung disease

scientific article

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