Pages that link to "Q54682789"

The following pages link to Improved molecular diagnosis of dystrophin gene mutations using the multiplex ligation-dependent probe amplification method. (Q54682789):

Displaying 35 items.

• DMD Mutations in 576 Dystrophinopathy Families: A Step Forward in Genotype-Phenotype Correlations (Q30378068) (← links)
• Identification of de novo mutations of Duchénnè/Becker muscular dystrophies in southern Spain. (Q33970356) (← links)
• Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype (Q34380291) (← links)
• Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations (Q34926082) (← links)
• Interventions for muscular dystrophy: molecular medicines entering the clinic (Q35014916) (← links)
• Use of the MLPA assay in the molecular diagnosis of gene copy number alterations in human genetic diseases. (Q35866022) (← links)
• Utility of MLPA in mutation analysis and carrier detection for Duchenne muscular dystrophy (Q36064194) (← links)
• Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene (Q36116280) (← links)
• Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort (Q36116293) (← links)
• Similarity of DMD gene deletion and duplication in the Chinese patients compared to global populations (Q36662506) (← links)
• Perspective on genes and mutations causing retinitis pigmentosa (Q36734545) (← links)
• Microarray-based mutation detection in the dystrophin gene (Q36952935) (← links)
• MLPA and MAPH: sensitive detection of deletions and duplications (Q37144406) (← links)
• New applications and developments in the use of multiplex ligation-dependent probe amplification (Q37340439) (← links)
• Genetic evaluation of familial cardiomyopathy (Q37766140) (← links)
• Genetic and Clinical Profile of Patients of Duchenne Muscular Dystrophy: Experience from a Tertiary Care Center in Eastern India (Q41631471) (← links)
• One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography (Q41876808) (← links)
• Reassessing carrier status for dystrophinopathies (Q42386733) (← links)
• Capillary electrophoresis for analysis of deletion and duplication in exon 44-55 of Duchenne muscular dystrophy gene (Q43911433) (← links)
• Exon deletion patterns of the dystrophin gene in 82 Vietnamese Duchenne/Becker muscular dystrophy patients (Q45389853) (← links)
• Deletion and duplication screening in the DMD gene using MLPA. (Q46609375) (← links)
• Ankle-Foot Orthosis in Duchenne Muscular Dystrophy: A 4 year Experience in a Multidisciplinary Neuromuscular Disorders Clinic. (Q47637858) (← links)
• Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency (Q47846577) (← links)
• Evaluation of point mutations in dystrophin gene in Iranian Duchenne and Becker muscular dystrophy patients: introducing three novel variants (Q51677375) (← links)
• Multiplex ligation-dependent probe amplification identification of deletions and duplications of the Duchenne muscular dystrophy gene in Taiwanese subjects (Q51750600) (← links)
• Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center (Q51770570) (← links)
• Small mutations of the DMD gene in Taiwanese families. (Q52587708) (← links)
• Molecular characterization of exonic rearrangements and frame shifts in the dystrophin gene in Duchenne muscular dystrophy patients in a Saudi community. (Q52598175) (← links)
• MLPA Application in Clinical Diagnosis of DMD/BMD in Shanghai. (Q54194415) (← links)
• Improved detection of deletions and duplications in the DMD gene using the multiplex ligation-dependent probe amplification (MLPA) method. (Q54280175) (← links)
• Two non-contiguous duplications in the DMD gene in a Spanish family. (Q54540697) (← links)
• Duplications in the DMD gene (Q80135953) (← links)
• Association of mutation types and distribution characteristics of dystrophin gene with clinical symptoms in Chinese population (Q83608260) (← links)
• A resolved discrepancy between multiplex PCR and multiplex ligation-dependent probe amplification by targeted next-generation sequencing discloses a novel partial exonic deletion in the Duchenne muscular dystrophy gene (Q88868936) (← links)
• The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study (Q90480167) (← links)