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Aritoshi Iida

medical genome center
H指数:44
被引数:8,523

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Exploring the genetic diversity of the Japanese population: Insights from a large-scale whole genome sequencing analysis
2023-12-0711
OAAI
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy
2022-04-2824
OAAI
Intranuclear inclusions in skin biopsies are not limited to neuronal intranuclear inclusion disease but can also be seen in oculopharyngodistal myopathy

皮肤活检中的核内包涵体不仅限于神经元核内包涵体疾病,但也可以在眼咽远端肌病中看到

2021-12-2818
PREAI
Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling

TMEM53的缺乏通过bmp-smad信号的失调导致先前未知的硬化性骨疾病

2021-04-0612
OAAI
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
2020-12-0130
OAAI
Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy
2020-06-01107
OAAI