Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
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Trendelenburg-Like Gait, Instability and Altered Step Patterns in a Mouse Model for Limb Girdle Muscular Dystrophy 2iVariants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar DisorganizationMutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathyMutational spectrum of Chinese LGMD patients by targeted next-generation sequencing.DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese LeukoencephalopathiesA first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesThe New Zealand Neuromuscular Disease Patient Registry; Five Years and a Thousand Patients.Progress and challenges in diagnosis of dysferlinopathy.Myopathology in the times of modern genetics.Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population.Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C).Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.Muscular dystrophies and myopathies: the spectrum of mutated genes in the Czech Republic.Cost-effectiveness of massively parallel sequencing for diagnosis of paediatric muscle diseases.Congenital myopathies: clinical phenotypes and new diagnostic tools.Genetic modifiers of Duchenne and facioscapulohumeral muscular dystrophies.Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers.Discovery of pathogenic variants in a large Korean cohort of inherited muscular disorders.Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
P2860
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P2860
Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
description
2015 nî lūn-bûn
@nan
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
2015年论文
@zh
2015年论文
@zh-cn
name
Use of Whole-Exome Sequencing ...... Outcomes and Lessons Learned.
@en
type
label
Use of Whole-Exome Sequencing ...... Outcomes and Lessons Learned.
@en
prefLabel
Use of Whole-Exome Sequencing ...... Outcomes and Lessons Learned.
@en
P2093
P50
P1433
P1476
Use of Whole-Exome Sequencing ...... : Outcomes and Lessons Learned
@en
P2093
Alastair Corbett
Carolyn M Sue
Christina Liang
Daniel G MacArthur
Garth Nicholson
Gina O'Grady
Kristi Jones
Leigh B Waddell
Mark Davis
Merrilee Needham
P304
P356
10.1001/JAMANEUROL.2015.2274
P407
P577
2015-12-01T00:00:00Z