INCORPORATING GENE MUTATION DATA INTO CF NEWBORN SCREENING AND PEDIATRIC CARE

Ren Clement L.

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INCORPORATING GENE MUTATION DATA INTO CF NEWBORN SCREENING AND PEDIATRIC CARE

机译：将基因突变数据纳入CF新生儿筛查和儿科护理

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《Pediatric Pulmonology》 |2015年第41期|共2页
作者
Ren Clement L.;
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正文语种 eng
中图分类儿科学;
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1. INCORPORATING GENE MUTATION DATA INTO CF NEWBORN SCREENING AND PEDIATRIC CARE [J] . Ren Clement L. Pediatric Pulmonology . 2015,第Suppla41期

机译：将基因突变数据纳入CF新生儿筛查和儿科护理
2. Newborn Screening Quality Assurance Program for CFTR Mutation Detection and Gene Sequencing to Identify Cystic Fibrosis [J] . Suzanne K. Cordovado, Miyono M. Hendrix, Stephanie L. Foster Journal of Inborn Errors of Metabolism & Screening . 2016,第10期

机译：CFTR突变检测和基因测序的新生儿筛查质量保证计划，以鉴定囊性纤维化
3. Incidence of cystic fibrosis in five different states of Brazil as determined by screening of p.F508del, mutation at the CFTR gene in newborns and patients. [J] . Raskin S, Pereira-Ferrari L, Caldeira-Reis F, Journal of cystic fibrosis: official journal of the European Cystic Fibrosis Society . 2008,第1期

机译：通过筛查p.F508del，新生儿和患者CFTR基因处的突变确定的巴西五个不同州的囊性纤维化发生率。
4. Visual ODLs: Co-Designing Patient-Generated Observations of Daily Living to Support Data-Driven Conversations in Pediatric Care [C] . Matthew K. Hong, Udaya Lakshmi, Thomas A. Olson, ACM Conference on Human Factors in Computing Systems . 2018

机译：视觉ODL：共同设计患者产生的日常生活观察，以支持儿科护理中的数据驱动对话
5. The role of the genetic counselor in newborn screening follow-up services: Recommendations regarding genetic counselor roles and education in anticipation of increased population-based screening. [D] . Giordano, Jessica L. 2008

机译：遗传咨询师在新生儿筛查随访服务中的作用：关于遗传咨询师在预期以人群为基础的筛查方面的作用和教育的建议。
6. The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts [O] . Amy Brower, Kee Chan, Michael Hartnett, 2021

机译：纵向儿科数据资源：促进纵向收集健康信息以通知临床护理和指导新生儿筛查努力
7. Analysis of CFTR mutations in Russian newborns with first positive IRT test. CF newborn screening efficacy and diagnostic outcomes [O] . Kusova Z.A., Kashirskaya N.Y., Petrova N.V., 2010

机译：首次IRT阳性的俄罗斯新生儿CFTR突变分析。 CF新生儿筛查的功效和诊断结果

INCORPORATING GENE MUTATION DATA INTO CF NEWBORN SCREENING AND PEDIATRIC CARE

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