日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features

线粒体疾病诊断延迟的驱动因素：未能识别典型特征

期刊:JIMD Reports
影响因子:1.8
doi:10.1002/jmd2.70068
Tinker, Rory J; Jacob, Neil; Syed, Mohammad Ghouse; Kelkar, Janhawi; Donnelly, Colleen; Elsharkawi, Ibrahim; Ganesh, Jaya; Gelb, Bruce D; Pejaver, Vikas; Kozicz, Tamas; Morava, Eva
线粒体
发表日期：2026
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Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features

线粒体疾病诊断延迟的驱动因素：未能识别典型特征

期刊:
影响因子:
doi:10.1101/2025.10.09.25337582
Tinker, Rory J; Jacob, Neil; Syed, Mohammad Ghouse; Kelkar, Janhawi; Donnelly, Colleen; Elsharkawi, Ibrahim; Ganesh, Jaya; Gelb, Bruce; Pejaver, Vikas; Kozicz, Tamas; Morava, Eva
线粒体
发表日期：2025
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Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in SPR and ZNF142 : A Case Report and Review of the UPD2 Literature

母系单亲二体性染色体2导致SPR和ZNF142纯合变异：病例报告及UPD2文献综述

期刊:Global Medical Genetics
影响因子:1.5
doi:10.1055/s-0044-1785442
Kelkar, Janhawi; DiMaio, Miriam; Ma, Deqiong; Zhang, Hui
NF1
发表日期：2024
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