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Katerina S. Kucera

RTI International
H指数:12
被引数:1,200

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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
Age-Related Blood Levels of Creatine Kinase-MM in Newborns and Patients with Duchenne Muscular Dystrophy: Considerations for the Development of Newborn Screening Algorithms

新生儿和杜氏肌营养不良症患者年龄相关的肌酸激酶-MM血水平:新生儿筛查算法开发的考量

2025-08-210
PRE
A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation
2024-12-012
PRE
Multi-Laboratory Evaluation of Prototype Dried Blood Spot Quality Control Materials for Creatine Kinase-MM Newborn Screening Assays

用于肌酸激酶-MM新生儿筛查试验的原型干血斑质控物的多实验室评价

2023-02-283
OAAI
Evaluation of the GSP Creatine Kinase-MM Assay and Assessment of CK-MM Stability in Newborn, Patient, and Contrived Dried Blood Spots for Newborn Screening for Duchenne Muscular Dystrophy

评估GSP肌酸激酶-MM测定和评估新生儿,患者和人为干血斑的ck-mm稳定性,以筛查Duchenne肌营养不良症

2022-01-2811
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
Investigating genetic links between grapheme-colour synaesthesia and neuropsychiatric traits

调查字素色通感与神经精神特征之间的遗传联系

2019-10-2112
OAAI