Centre for Biomedical Network Research on Rare Diseases View Homepage


Ontology type: grid:Facility  | foaf:Organization     


Organization Info

NAME

Centre for Biomedical Network Research on Rare Diseases

HOMEPAGE

http://www.ciberer.es/

ADDRESS

http://www.grid.ac/institutes/grid.452372.5/address-0

Publications in SciGraph latest 20 shown

  • 2019-12 Do polygenic risk and stressful life events predict pharmacological treatment response in obsessive compulsive disorder? A gene–environment interaction approach in TRANSLATIONAL PSYCHIATRY
  • 2019-12 Shared heritability and functional enrichment across six solid cancers in NATURE COMMUNICATIONS
  • 2019-12 Differences in expression rather than methylation at placenta-specific imprinted loci is associated with intrauterine growth restriction in CLINICAL EPIGENETICS
  • 2019-12 Low survival rate and muscle fiber-dependent aging effects in the McArdle disease mouse model in SCIENTIFIC REPORTS
  • 2019-12 Tetralogy of Fallot in Spain: a nationwide registry-based mortality study across 36 years. in ORPHANET JOURNAL OF RARE DISEASES
  • 2019-12 A comprehensive proteomics-based interaction screen that links DYRK1A to RNF169 and to the DNA damage response. in SCIENTIFIC REPORTS
  • 2019-04 Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation in GENETICS IN MEDICINE
  • 2019-04 Bethlem myopathy: a series of 16 patients and description of seven new associated mutations in JOURNAL OF NEUROLOGY
  • 2019-03 Genome-wide association study of germline variants and breast cancer-specific mortality in BRITISH JOURNAL OF CANCER
  • 2019-02-15 Loss of glutathione redox homeostasis impairs proteostasis by inhibiting autophagy-dependent protein degradation in CELL DEATH & DIFFERENTIATION
  • 2019-02-11 Downregulation of specific FBXW7 isoforms with differential effects in T-cell lymphoblastic lymphoma in ONCOGENE
  • 2019-02 Understanding the evolving phenotype of vascular complications in telomere biology disorders in ANGIOGENESIS
  • 2019-01-21 Quantitative neuromuscular ultrasound analysis as biomarkers in amyotrophic lateral sclerosis in EUROPEAN RADIOLOGY
  • 2019-01-16 Dynamic role of the codon 72 p53 single-nucleotide polymorphism in mammary tumorigenesis in a humanized mouse model in ONCOGENE
  • 2018-12-04 Reply to ‘Mosaic loss of chromosome Y in leukocytes matters’ in NATURE GENETICS
  • 2018-12 Quantitative muscle MRI to follow up late onset Pompe patients: a prospective study in SCIENTIFIC REPORTS
  • 2018-12 Advanced sporadic renal epithelioid angiomyolipoma: case report of an extraordinary response to sirolimus linked to TSC2 mutation in BMC CANCER
  • 2018-12 Defects in the mitochondrial-tRNA modification enzymes MTO1 and GTPBP3 promote different metabolic reprogramming through a HIF-PPARγ-UCP2-AMPK axis in SCIENTIFIC REPORTS
  • 2018-12 Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease in ORPHANET JOURNAL OF RARE DISEASES
  • 2018-12 Searching the second hit in patients with inherited retinal dystrophies and monoallelic variants in ABCA4, USH2A and CEP290 by whole-gene targeted sequencing in SCIENTIFIC REPORTS
  • JSON-LD is the canonical representation for SciGraph data.

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    11 TRIPLES      10 PREDICATES      11 URIs      6 LITERALS

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    6 grid:isni 0000 0004 1791 1185
    7 rdf:type grid:Facility
    8 foaf:Organization
    9 rdfs:label Centre for Biomedical Network Research on Rare Diseases
    10 skos:prefLabel Centre for Biomedical Network Research on Rare Diseases
    11 foaf:homepage http://www.ciberer.es/
     




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