Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
about
Management of Charcot-Marie-Tooth disease: improving long-term care with a multidisciplinary approachClinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary NeuropathyDiagnostic and cost utility of whole exome sequencing in peripheral neuropathy.Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel SequencingExome Sequencing and Gene Prioritization Correct Misdiagnosis in a Chinese Kindred with Familial Amyloid PolyneuropathyDiagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review.Whole-exome sequencing is a valuable diagnostic tool for inherited peripheral neuropathies: Outcomes from a cohort of 50 families.EGR2 mutation enhances phenotype spectrum of Dejerine-Sottas syndrome.Further Validation of the SIGMAR1 c.151+1G>T Mutation as Cause of Distal Hereditary Motor Neuropathy.Structural variations causing inherited peripheral neuropathies: A paradigm for understanding genomic organization, chromatin interactions, and gene dysregulation.
P2860
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P2860
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
description
2015 nî lūn-bûn
@nan
2015 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունվարին հրատարակված գիտական հոդված
@hy
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
name
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
@ast
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
@en
type
label
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
@ast
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
@en
prefLabel
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
@ast
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
@en
P2093
P2860
P356
P1476
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing
@en
P2093
Aditi Kidambi
Azlina Ahmad-Annuar
Carolyn Ly
Danqing Zhu
Garth A Nicholson
Marina L Kennerson
Megan H Brewer
Shelisa Tey
P2860
P304
P356
10.1002/MGG3.126
P577
2015-01-14T00:00:00Z