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Nirmal Vadgama

Stanford University
H指数:11
被引数:1,689

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Carboxypeptidase D deficiency causes hearing loss amenable to treatment

羧肽酶D缺乏导致可治疗的听力损失

2025-12-010
OA
Light-evoked activity and BDNF regulate mitochondrial dynamics and mitochondrial localized translation in CNS axons

光诱发活动及BDNF调控中枢神经系统轴突中的线粒体动力学和线粒体定位翻译

2025-09-150
OAAI
Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction (vol 144, 109049, 2025)

遗传分析与多模态成像证实 m.12148 T>C 线粒体变异的致病性导致多系统功能障碍 (vol 144, 109049, 2025)

2025-05-010
PRE
Genetic analysis and multimodal imaging confirm m.12148 T> C mitochondrial variant pathogenicity leading to multisystem dysfunction

遗传分析和多峰成像证实m.12148t> C线粒体变异致病性导致多系统功能障碍

2025-03-010
PRE
Serine biosynthesis as a novel therapeutic target for dilated cardiomyopathy

丝氨酸生物合成作为扩张型心肌病的新治疗靶点

2022-06-2234
OA
Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice
2022-06-215
OAAI
Unfolded Protein Response as a Compensatory Mechanism and Potential Therapeutic Target in PLN R14del Cardiomyopathy
2021-08-0342
OA
Small-molecule probe reveals a kinase cascade that links stress signaling to TCF/LEF and Wnt responsiveness
2021-05-015
OAAI