Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis.
about
Upper girdle imaging in facioscapulohumeral muscular dystrophy.Targeted next-generation sequencing of deafness genes in hearing-impaired individuals uncovers informative mutations.Deciphering transcription dysregulation in FSH muscular dystrophy.Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Next generation sequencing (NGS) strategies for the genetic testing of myopathies.
P2860
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P2860
Diagnosis by sequencing: correction of misdiagnosis from FSHD2 to LGMD2A by whole-exome analysis.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
Diagnosis by sequencing: corre ...... GMD2A by whole-exome analysis.
@ast
Diagnosis by sequencing: corre ...... GMD2A by whole-exome analysis.
@en
type
label
Diagnosis by sequencing: corre ...... GMD2A by whole-exome analysis.
@ast
Diagnosis by sequencing: corre ...... GMD2A by whole-exome analysis.
@en
prefLabel
Diagnosis by sequencing: corre ...... GMD2A by whole-exome analysis.
@ast
Diagnosis by sequencing: corre ...... GMD2A by whole-exome analysis.
@en
P2093
P2860
P356
P1476
Diagnosis by sequencing: corre ...... GMD2A by whole-exome analysis.
@en
P2093
Andreas Leidenroth
Gregor Gilfillan
Hanne Sørmo Sorte
Jane E Hewitt
Melanie Ehrlich
Robert Lyle
P2860
P2888
P304
P356
10.1038/EJHG.2012.42
P577
2012-02-29T00:00:00Z
P5875
P6179
1046277620