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Analysis of PALB2 Gene in BRCA1/BRCA2 Negative Spanish Hereditary Breast/Ovarian Cancer Families with Pancreatic Cancer Cases
published 23 Jul 2013
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Structural Analysis of Mitochondrial Mutations Reveals a Role for Bigenomic Protein Interactions in Human Disease
published 09 Jul 2013
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Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome
published 21 Jun 2013
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Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis
published 14 Jun 2013
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Novel Mutations in the SCNN1A Gene Causing Pseudohypoaldosteronism Type 1
published 06 Jun 2013
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Targeted Exome Sequencing Identified Novel USH2A Mutations in Usher Syndrome Families
published 30 May 2013
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Identification of a KEAP1 Germline Mutation in a Family with Multinodular Goitre
published 28 May 2013
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Targeted Sequencing of Cancer-Related Genes in Colorectal Cancer Using Next-Generation Sequencing
published 21 May 2013
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Methylation State of the EDA Gene Promoter in Chinese X-Linked Hypohidrotic Ectodermal Dysplasia Carriers
published 23 Apr 2013
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DNA-Bound Platinum Is the Major Determinant of Cisplatin Sensitivity in Head and Neck Squamous Carcinoma Cells
published 17 Apr 2013
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EZH2 Mutations Are Related to Low Blast Percentage in Bone Marrow and -7/del(7q) in De Novo Acute Myeloid Leukemia
published 17 Apr 2013
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The Phenotype of Many Independently Isolated +1 Frameshift Suppressor Mutants Supports a Pivotal Role of the P-Site in Reading Frame Maintenance
published 04 Apr 2013
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Novel DNA Variants and Mutation Frequencies of hMLH1 and hMSH2 Genes in Colorectal Cancer in the Northeast China Population
published 03 Apr 2013
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