Institute of Genetic and Biomedical Research
74 papers found
Population structure of modern-day Italians reveals patterns of ancient and archaic ancestries in Southern Europe
Integrated Analysis of miRNA and mRNA Endorses a Twenty miRNAs Signature for Colorectal Carcinoma
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman
Novel action of FOXL2 as mediator of Col1a2 gene autoregulation.
DNA hydroxymethylation controls cardiomyocyte gene expression in development and hypertrophy.
Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
A reference panel of 64,976 haplotypes for genotype imputation
Global microRNA profiling of peripheral blood mononuclear cells in patients with Behçet's disease
Correction: Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools
Height-reducing variants and selection for short stature in Sardinia
Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels
Mandibular hypoplasia, deafness, progeroid features and lipodystrophy (MDPL) syndrome in the context of inherited lipodystrophies
Assessing Mitochondrial DNA Variation and Copy Number in Lymphocytes of ~2,000 Sardinians Using Tailored Sequencing Analysis Tools
Detection of phylogenetically informative polymorphisms in the entire euchromatic portion of human Y chromosome from a Sardinian sample
Preliminary Transcriptome Analysis in Lymphoblasts from Cluster Headache and Bipolar Disorder Patients Implicates Dysregulation of Circadian and Serotonergic Genes
Whole-Genome Sequence of Listeria monocytogenes Serovar 4b Strain IZSAM_Lm_hs2008, Isolated from a Human Infection in Italy
Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs
Complete genome sequence of mitochondrial DNA (mtDNA) ofChlorella sorokiniana
An Automated Infrastructure to Support High-throughput Bioinformatics
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