New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.
about
RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.Congenital myopathies: clinical phenotypes and new diagnostic tools.The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement.Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.Correlation of phenotype with genotype and protein structure in RYR1-related disorders
P2860
New massive parallel sequencing approach improves the genetic characterization of congenital myopathies.
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
@wuu
2016年学术文章
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2016年学术文章
@zh-cn
2016年学术文章
@zh-hans
2016年学术文章
@zh-my
2016年学术文章
@zh-sg
2016年學術文章
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2016年學術文章
@zh-hant
name
New massive parallel sequencin ...... tion of congenital myopathies.
@en
New massive parallel sequencin ...... tion of congenital myopathies.
@nl
type
label
New massive parallel sequencin ...... tion of congenital myopathies.
@en
New massive parallel sequencin ...... tion of congenital myopathies.
@nl
prefLabel
New massive parallel sequencin ...... tion of congenital myopathies.
@en
New massive parallel sequencin ...... tion of congenital myopathies.
@nl
P2093
P2860
P50
P356
P1476
New massive parallel sequencin ...... tion of congenital myopathies.
@en
P2093
Elmira Medeiros
Manuel Melo-Pires
Manuela Santos
Teresa Coelho
P2860
P2888
P304
P356
10.1038/JHG.2016.2
P50
P577
2016-02-04T00:00:00Z