about
Alport syndrome cold cases: Missing mutations identified by exome sequencing and functional analysisQualitative and quantitative assessment of Illumina's forensic STR and SNP kits on MiSeq FGx™.Next-generation sequencing: recent applications to the analysis of colorectal cancer.Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.Points to consider for laboratories reporting results from diagnostic genomic sequencing.Next-Generation Sequencing in Diagnostic Pathology.A phenotype centric benchmark of variant prioritisation tools.Identification of novel mutations in hemochromatosis genes by targeted next generation sequencing in Italian patients with unexplained iron overload.A Next-Generation Sequencing Primer-How Does It Work and What Can It Do?Recent developments in genetics and medically assisted reproduction: from research to clinical applications
P2860
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P2860
description
2016 nî lūn-bûn
@nan
2016年の論文
@ja
2016年論文
@yue
2016年論文
@zh-hant
2016年論文
@zh-hk
2016年論文
@zh-mo
2016年論文
@zh-tw
2016年论文
@wuu
2016年论文
@zh
2016年论文
@zh-cn
name
Guidelines for diagnostic next-generation sequencing.
@en
type
label
Guidelines for diagnostic next-generation sequencing.
@en
prefLabel
Guidelines for diagnostic next-generation sequencing.
@en
P2093
P356
P1476
Guidelines for diagnostic next-generation sequencing.
@en
P2093
Anniek Corveleyn
Egbert Bakker
Erik Sistermans
Erika Souche
Hans Scheffer
Helger Yntema
Ilse Feenstra
Mariëlle Alders
Marjan Weiss
Peter Bauer
P2888
P356
10.1038/EJHG.2016.63
P577
2016-10-01T00:00:00Z
P6179
1035848485