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Mosaicism of the UDP-Galactose Transporter SLC35A2 Causes a Congenital Disorder of Glycosylation
Download from www.ncbi.nlm.nih.govMutations in KCTD1 Cause Scalp-Ear-Nipple Syndrome
Download from www.ncbi.nlm.nih.govMutations in ECEL1 Cause Distal Arthrogryposis Type 5D
Download from www.ncbi.nlm.nih.govA suppressor screen in Mecp2 mutant mice implicates cholesterol metabolism in Rett syndrome
Download from www.nature.comAssemblathon 2: evaluating de novo methods of genome assembly in three vertebrate species
Download from link.springer.comExome Sequencing Identifies Mutations in CCDC114 as a Cause of Primary Ciliary Dyskinesia
Download from www.ncbi.nlm.nih.govTranscriptome-wide miR-155 Binding Map Reveals Widespread Noncanonical MicroRNA Targeting
Download from www.ncbi.nlm.nih.govAnalysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
Download from www.nature.comMultiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders
Download from www.ncbi.nlm.nih.govThe expanding scope of DNA sequencing
Download from www.nature.comEstimating the human mutation rate using autozygosity in a founder population
Download from www.nature.comA High Coverage Genome Sequence From an Archaic Denisovan Individual
Download from www.ncbi.nlm.nih.govMissing publications? Search for publications with a matching author name.