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Linda Hasadsri

Mayo Clinic
H指数:22
被引数:2,262

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Clinically Discordant Siblings with Spinal Muscular Atrophy: Insights from their Patient-Specific iPSC-Derived Motor Neurons and Literature Review

临床不一致性脊髓性肌萎缩症同胞:来自其患者特异性iPSC来源运动神经元及文献综述

2025-12-130
OAAI
DMD Duplications Identified by Carrier Screening Should NOT Automatically Be Classified as [Likely] Pathogenic: Data from Long-Read Sequencing of 15 Cases

通过携带者筛查鉴定的DMD重复变异不应自动归类为[可能]致病性:15例长读长测序数据

2025-10-010
OAAI
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: high prevalence of non-tandem duplications revealed by long-read sequencing

重新思考通过携带者筛查检测到的基因内DMD重复片段的致病性:长读长测序揭示了非串联重复片段的高发生率

2025-08-050
PRE
Clinicopathologic, Proteomic and Outcome Characteristics of Renal Apolipoprotein C-II Amyloidosis: A Case Series

肾载脂蛋白C-II淀粉样变性的临床病理、蛋白质组学和预后特征:一个病例系列

2025-03-010
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Loss-of-Function Variants in CUL3 Cause a Syndromic Neurodevelopmental Disorder

CUL3中的功能丧失变体导致综合征性神经发育障碍

2024-09-202
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εγ-Thalassemia, a New Hemoglobinopathy Category
2023-04-221
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Impact of integrated translational research on clinical exome sequencing (vol 23, pg 498, 2021)
2023-02-011
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