Against all odds: blended phenotypes of three single-gene defects.
about
Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.Exploiting the potential of next-generation sequencing in genomic medicine.Using whole-exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology.Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.Thyroid Hormone Status in Sitosterolemia Is Modified by Ezetimibe.OligoPVP: Phenotype-driven analysis of individual genomic information to prioritize oligogenic disease variants
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P2860
Against all odds: blended phenotypes of three single-gene defects.
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
Against all odds: blended phenotypes of three single-gene defects.
@en
type
label
Against all odds: blended phenotypes of three single-gene defects.
@en
prefLabel
Against all odds: blended phenotypes of three single-gene defects.
@en
P2093
P2860
P356
P1476
Against all odds: blended phenotypes of three single-gene defects.
@en
P2093
Anika Salfelder
Anna Köttgen
Bernhard Zabel
Dieter Lütjohann
Ekkehart Lausch
Karl Otfried Schwab
Pablo Villavicencio-Lorini
Sarah Catharina Grünert
Tanja Velten
Uta Matysiak-Scholze
P2860
P2888
P304
P356
10.1038/EJHG.2015.285
P50
P577
2016-01-27T00:00:00Z
P5875
P6179
1016190916