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UnknownDetection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness.
Not available
S-EPMC6066920 | biostudies-literature
UnknownEfficacy of a device to narrow the coronary sinus in refractory angina.
Not available
S-EPMC6647842 | biostudies-literature
GenomicsMOLPAGE_data - samples
Case and control samples (Genotypes)
EGAD00010000371 | EGA
GenomicsMolecular Phenotyping to Accelerate Genomic Epidemiology (MolPAGE)
MolPAGE is an integrated EU project that aims to develop methods and tools for discovery of biomarkers associated with diabetes (see www.ocdem.ox.ac.uk for MolOBB and www.twinsuk.ac.uk for MolTWIN).
EGAS00000000102 | EGA
GenomicsMolPAGE Data Access Committee
Data Access Committee EGAC01000000017
EGAC01000000017 | EGA
UnknownCharacterisation of the Circulating Transcriptomic Landscape in Inflammatory Bowel Disease Provides Evidence for Dysregulation of Multiple Transcription Factors Including NFE2, SPI1, CEBPB, and IRF2.
Not available
S-EPMC9426667 | biostudies-literature
UnknownFrom Permits to Samples: Addressing Key Challenges for High-Quality Reference Genome Generation in Europe.
Not available
S-EPMC12820446 | biostudies-literature
UnknownA MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.
Not available
S-EPMC8440635 | biostudies-literature
UnknownMutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Not available
S-EPMC3374402 | biostudies-literature
UnknownExtensive climate-induced range shifts in butterflies across the globe.
Not available
S-EPMC13642037 | biostudies-literature
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