Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders.
about
Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation.Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice.Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure.Genomic medicine for kidney disease.Targeted next-generation sequencing analysis in couples at increased risk for autosomal recessive disorders.Clinical exome sequencing in France and Quebec: what are the challenges? What does the future hold?
P2860
Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders.
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Whole-Exome Sequencing and Who ...... to Have Single-Gene Disorders.
@en
type
label
Whole-Exome Sequencing and Who ...... to Have Single-Gene Disorders.
@en
prefLabel
Whole-Exome Sequencing and Who ...... to Have Single-Gene Disorders.
@en
P2860
P1476
Whole-Exome Sequencing and Who ...... to Have Single-Gene Disorders.
@en
P2093
Laurie D Smith
P2860
P304
P356
10.1101/CSHPERSPECT.A023168
P577
2015-12-18T00:00:00Z