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Rare diseases
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Molecular anatomy of Noonan syndrome mutations in the testes of unaffected men
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The mechanism of damage-induced mutations in Escherichia coli
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Mechanisms of ovarian cancer predisposition in BRCA1 mutation carriers
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Identifying novel combination for multidrug-resistant neuroblastoma with TP53 mutations
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Cluster analysis of p53 mutational spectra
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On the fraction of neutral mutations
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Clinical and molecular genetic studies on families with inherited dental anomalies
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Genotype-phenotype associations in children with a positive cystic fibrosis newborn screening
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Evolutionary genomic analysis in heterogeneous populations of non-model and model organisms
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Taq DNA polymerase slippage mutations at (CA/GT)(n) and (A/T)(n) microsatellites during PCR
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Infrequent androgen receptor mutations in primary prostate tumors from men residing in Singapore and Los Angeles
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Somatic mutations in the SRD5A2 gene associated with prostate cancer
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The roles of type VII collagen in wound healing and scar reduction
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BRCA1 mutations and polymorphisms in African American women with a family history of breast cancer identified through high throughput sequencing
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Gentamicin treatment induces functional protein in Herlitz-junctional epidermolysis bullosa patients and improves wound closure
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Post-GWAS methods in large scale studies of breast cancer in African Americans
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Estimation of carrier frequencies of peroxisomal disorders and deficiencies in global populations
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The role of Rho-GEF signaling in synapse function and autism-related disorders
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Kinase activity of the pseudohypoaldosteronism type II gene product, WNK4
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Developing novel in vitro model systems to investigate therapeutic hypotheses for peroxisome biogenesis disorders
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Study of isoniazid-resistant tuberculosis: mycobacterial genotypic characterization and clinical features in human subjects
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Loss of WRN causes instability of expanded CTG trinucleotide repeats (TNRs)
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Fgfr2 regulates cell fate at the interface between tendon and bone
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Functional study of C9ORF72 and its implication in the pathogenesis of amyotrophic lateral sclerosis
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