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Naomi Tsuchida

yokohama city university
H指数:23
被引数:1,695

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An N-terminal CDC42 T43I variant reveals the mechanism of pyrin inflammasome activation

N端CDC42 T43I变异体揭示了pyrin炎性小体的激活机制

2026-08-070
PRE
Monoallelic and biallelic RNU4-2 variants in neurodevelopmental disorders

单等位基因和双等位基因RNU4-2变异在神经发育障碍中的作用

2025-12-170
PRE
Correction: Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability

更正:新型复合杂合ABCA2变异导致IDPOGSA,一种具有智力障碍的变异表型综合征。

2025-11-100
PRE
High glucocorticoid dependency and limited therapeutic response in Japanese patients with VEXAS syndrome: a multicentre retrospective study

日本VEXAS综合征患者对糖皮质激素的高度依赖和有限的治疗反应: 一项多中心回顾性研究

2025-11-010
PRE
Comparative effectiveness and safety of peficitinib and abatacept for rheumatoid arthritis: a multicentre, inverse probability weighting analysis

吡非替尼和阿巴西普治疗类风湿关节炎的有效性和安全性比较: 多中心,逆概率加权分析

2025-10-010
PRE
Genome sequencing provides high diagnostic yield and new etiological insights for intellectual disability and developmental delay

基因组测序为智力障碍和发育迟缓提供了高诊断率和新的病因学见解。

2025-08-260
OAAI
Diagnostic utility of single-locus DNA methylation mark in Sotos syndrome developed by nanopore sequencing-based episignature

基于纳米孔测序的Sotos综合征单一位点DNA甲基化标记物的诊断效用

2025-02-180
OA
Functional evaluation of novel variants of B4GALNT1 in a patient with hereditary spastic paraplegia and the general population
2024-07-310
OAAI
Complete nanopore repeat sequencing of SCA27B (GAA-FGF14 ataxia) in Japanese
2024-05-300
PRE
Exome-wide benchmark of difficult-to-sequence regions using short-read next-generation dna sequencing
2023-11-282
OAAI
Protective effect of hydroxychloroquine on infections in patients with systemic lupus erythematosus: an observational study using the LUNA registry
2023-09-014
OAAI
A missense variant at the RAC1-PAK1 binding site of RAC1 inactivates downstream signaling in VACTERL association
2023-06-164
OAAI