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Genetic disorders and mortality in infancy and early childhood: delayed diagnoses and missed opportunities.
Genetics in Medicine ( IF 6.6 ) Pub Date : 2018-11-01 , DOI: 10.1038/gim.2018.17 Monica H Wojcik 1, 2, 3 , Talia S Schwartz 2, 3 , Inbar Yamin 2, 3 , Heather L Edward 2, 3 , Casie A Genetti 2, 3 , Meghan C Towne 2, 3, 4 , Pankaj B Agrawal 1, 2, 3
Genetics in Medicine ( IF 6.6 ) Pub Date : 2018-11-01 , DOI: 10.1038/gim.2018.17 Monica H Wojcik 1, 2, 3 , Talia S Schwartz 2, 3 , Inbar Yamin 2, 3 , Heather L Edward 2, 3 , Casie A Genetti 2, 3 , Meghan C Towne 2, 3, 4 , Pankaj B Agrawal 1, 2, 3
Affiliation
Infants admitted to a level IV neonatal intensive care unit (NICU) who do not survive early childhood are a population that is probably enriched for rare genetic disease; we therefore characterized their genetic diagnostic evaluation.
中文翻译:
婴儿和儿童早期的遗传疾病和死亡率:延迟诊断和错失机会。
入住 IV 级新生儿重症监护病房 (NICU) 且未能在儿童早期存活下来的婴儿可能富含罕见遗传病;因此,我们描述了他们的基因诊断评估。
更新日期:2018-04-12
中文翻译:
婴儿和儿童早期的遗传疾病和死亡率:延迟诊断和错失机会。
入住 IV 级新生儿重症监护病房 (NICU) 且未能在儿童早期存活下来的婴儿可能富含罕见遗传病;因此,我们描述了他们的基因诊断评估。