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Interplay between DMD Point Mutations and Splicing Signals in Dystrophinopathy Phenotypes
published 25 Mar 2013
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Additional Routes to Staphylococcus aureus Daptomycin Resistance as Revealed by Comparative Genome Sequencing, Transcriptional Profiling, and Phenotypic Studies
published 15 Mar 2013
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Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification
published 20 Feb 2013
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Hereditary Angioedema Nationwide Study in Slovenia Reveals Four Novel Mutations in SERPING1 Gene
published 20 Feb 2013
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Only Missense Mutations Affecting the DNA Binding Domain of P53 Influence Outcomes in Patients with Breast Carcinoma
published 24 Jan 2013
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The Spectrum of SWI/SNF Mutations, Ubiquitous in Human Cancers
published 23 Jan 2013
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Promoter Hypermethylation of ARID1A Gene Is Responsible for Its Low mRNA Expression in Many Invasive Breast Cancers
published 21 Jan 2013
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Mutations in the Hedgehog Pathway Genes SMO and PTCH1 in Human Gastric Tumors
published 18 Jan 2013
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Union Makes Strength: A Worldwide Collaborative Genetic and Clinical Study to Provide a Comprehensive Survey of RD3 Mutations and Delineate the Associated Phenotype
published 07 Jan 2013
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X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients
published 31 Dec 2012
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Genome-Wide Survey of Pseudogenes in 80 Fully Re-sequenced Arabidopsis thaliana Accessions
published 13 Dec 2012
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Multiple Mechanisms Contribute to Leakiness of a Frameshift Mutation in Canine Cone-Rod Dystrophy
published 12 Dec 2012
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Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa with Late-Onset Hearing Loss
published 12 Dec 2012
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