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Melissa Raspa

RTI International
H指数:33
被引数:3,190

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A North Carolina Newborn Screening Pilot for Mucopolysaccharidosis II: Evaluating Endogenous Non-Reducing End Glycosaminoglycan Analysis and IDS Sequencing as Higher-Tier Testing Options

北卡罗来纳州黏多糖贮积症II型新生儿筛查试点:评估内源性非还原端糖胺聚糖分析和IDS测序作为高级别检测选项

2026-04-210
PREAI
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program

Cope, H.L.; Jalazo, E.R.; Berg, J.S.; Sullivan, J.A.; Kucera, K.S.; Shone, S.M.; Frawley, H.E.; Gwaltney, A.Y.; Forsythe, A.N.; Migliore, B.A.; et al. 扩展基因组新生儿筛查在Early Check计划中的可行性与临床应用价值。Nat. Med. 2025, 31, 3762–3771. [Google Scholar] [CrossRef] [PubMed]

2025-09-050
OAAI
Insight and Recommendations for Fragile X-Premutation-Associated Conditions from the Fifth International Conference on FMR1 Premutation

第五届FMR1前突变国际会议对脆性X前突变相关条件的见解和建议

CELLS
IF5.2
2023-09-2128
OAAI
A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check

一名自愿的全州新生儿脊髓性肌萎缩症筛查飞行员: 早期检查的结果

2021-03-2122
OAAI
Outreach to new mothers through direct mail and email: recruitment in the Early Check research study

通过直接邮件和电子邮件与新妈妈联系: 早期检查研究中的招聘

2021-02-1311
OAAI