Lista de obras - Yuri Uchiyama - Dominio Público Uruguay

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

Biallelic COLGALT1 variants are associated with cerebral small vessel disease

artículo científico publicado en 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

artículo científico publicado en 2020

Detection of copy number variations in epilepsy using exome data.

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2021

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2018

Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Whole exome sequencing of fetal structural anomalies detected by ultrasonography

artículo científico publicado en 2020

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

artículo científico publicado en 2018

Lista de obras de Yuri Uchiyama

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

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

Biallelic COLGALT1 variants are associated with cerebral small vessel disease

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

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

Detection of copy number variations in epilepsy using exome data.

Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome

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

Nonsense variants in STAG2 result in distinct sex-dependent phenotypes

Novel CLTC variants cause new brain and kidney phenotypes

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

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

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

Two Japanese cases of epileptic encephalopathy associated with an FGF12 mutation

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

Whole exome sequencing of fetal structural anomalies detected by ultrasonography

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