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Hiroyuki Mishima

nagasaki university
H指数:26
被引数:2,712

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Muir–Torre Syndrome Associated With a Cryptic Intronic MSH2 Variant Identified via Whole-Genome Sequencing: A Case Report

Muir–Torre综合征与通过全基因组测序鉴定的隐匿内含子MSH2变异:病例报告

2026-09-070
OAAI
Clonal hematopoiesis related to ionizing radiation in atomic bomb survivors

原子弹幸存者中与电离辐射相关的克隆性造血

Leukemia
IF13.4
2026-08-120
OAAI
Maternal copy number variations detected by noninvasive prenatal testing in Japanese women

日本女性通过无创产前检测检测到的母体拷贝数变异

2026-01-130
PRE
Phenotypic spectrum of cardiac conduction disturbance and cardiomyopathy linked to titin canonical splice-site variants

与titan经典剪接位点变异相关的心脏传导障碍和心肌病的表型谱

2025-09-011
PRE
Disrupted CaV1.2 selectivity causes overlapping long QT and Brugada syndrome phenotypes in the CACNA1C-E1115K iPS cell model
2023-01-016
OAAI
Heterozygous missense variant of the proteasome subunit β-type 9 causes neonatal-onset autoinflammation and immunodeficiency
2021-11-2426
OAAI
Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome
2021-06-0541
PRE
Cardiac Emerinopathy A Nonsyndromic Nuclear Envelopathy With Increased Risk of Thromboembolic Stroke Due to Progressive Atrial Standstill and Left Ventricular Noncompaction
2020-10-0119
OAAI