Pages that link to "Q30455033"

The following pages link to Assessment of target enrichment platforms using massively parallel sequencing for the mutation detection for congenital muscular dystrophy (Q30455033):

Displaying 25 items.

• Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives (Q26776038) (← links)
• Diagnostic approach to the congenital muscular dystrophies (Q30767612) (← links)
• The validation and clinical implementation of BRCAplus: a comprehensive high-risk breast cancer diagnostic assay (Q33618536) (← links)
• Comprehensive mutation analysis for congenital muscular dystrophy: a clinical PCR-based enrichment and next-generation sequencing panel (Q34551175) (← links)
• A rapid NGS strategy for comprehensive molecular diagnosis of Birt-Hogg-Dubé syndrome in patients with primary spontaneous pneumothorax (Q36942122) (← links)
• Next-generation sequencing for disorders of low and high bone mineral density (Q37004612) (← links)
• The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients (Q37063440) (← links)
• Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis (Q37589634) (← links)
• Next-generation sequencing in childhood disorders (Q38156424) (← links)
• Differential haplotype amplification leads to misgenotyping of heterozygote as homozygote when using single nucleotide mismatch primer (Q38319903) (← links)
• Overview of Target Enrichment Strategies (Q38596044) (← links)
• Advances in clinical next-generation sequencing: target enrichment and sequencing technologies (Q38672934) (← links)
• Next generation sequencing (NGS) strategies for the genetic testing of myopathies (Q39980386) (← links)
• A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield (Q43754788) (← links)
• Targeted next-generation sequencing can replace Sanger sequencing in clinical diagnostics (Q45736566) (← links)
• Performance evaluation of the next-generation sequencing approach for molecular diagnosis of hereditary hearing loss (Q50357419) (← links)
• Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders. (Q50967429) (← links)
• Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. (Q51063227) (← links)
• Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients (Q58113988) (← links)
• Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes (Q61444989) (← links)
• PKD1 Duplicated regions limit clinical Utility of Whole Exome Sequencing for Genetic Diagnosis of Autosomal Dominant Polycystic Kidney Disease (Q64109765) (← links)
• Novel Discovery of LINE-1 in a Korean Individual by a Target Enrichment Method. (Q64978875) (← links)
• Targeted Next Generation Sequencing Identifies a Novel Deletion in LAMA2 Gene in a Merosin Deficient Congenital Muscular Dystrophy Patient (Q85445096) (← links)
• The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease (Q92605287) (← links)
• Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients (Q93050552) (← links)