List of works - Yuri Uchiyama

A novel CYCS mutation in the α-helix of the CYCS C-terminal domain causes non-syndromic thrombocytopenia

scientific article published on 03 September 2018

A novel GFI1B mutation at the first zinc finger domain causes congenital macrothrombocytopenia.

scientific article published on 25 April 2017

Biallelic COLGALT1 variants are associated with cerebral small vessel disease

scientific article published on 30 November 2018

Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

scientific article published on 23 July 2019

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

Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome

scientific article published on 16 July 2019

Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients

scientific article published on 17 September 2019

Nonsense variants in STAG2 result in distinct sex-dependent phenotypes

scientific article published on 14 February 2019

Novel CLTC variants cause new brain and kidney phenotypes

scientific article published on 07 July 2021

Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant

scientific article published on 18 June 2019

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy

scientific article published on 23 November 2018

Successful hemostatic management of major surgery for cervical spondylotic myelopathy in a patient with severe factor XI deficiency

scientific article published on 30 April 2018

Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation

scientific article published on 23 April 2018

Ultra-sensitive droplet digital PCR for detecting a low-prevalence somatic GNAQ mutation in Sturge-Weber syndrome

scientific article published on 9 March 2016

Whole exome sequencing of fetal structural anomalies detected by ultrasonography

scientific article published on 03 November 2020

[Congenital factor V and factor VIII deficiency discovered in an elderly patient with abnormal bleeding after trauma]

scientific article published on 01 January 2018

List of works by Yuri Uchiyama