Stefano Duga


Ontology type: schema:Person     


Person Info

NAME

Stefano

SURNAME

Duga

Publications in SciGraph latest 50 shown

  • 2017-12 The GBAP1 pseudogene acts as a ceRNA for the glucocerebrosidase gene GBA by sponging miR-22-3p in SCIENTIFIC REPORTS
  • 2016-12 Whole-gene CFTR sequencing combined with digital RT-PCR improves genetic diagnosis of cystic fibrosis in JOURNAL OF HUMAN GENETICS
  • 2016-04 First independent replication of the involvement of LARS2 in Perrault syndrome by whole-exome sequencing of an Italian family in JOURNAL OF HUMAN GENETICS
  • 2015-06 The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2015-05 TUBA4A gene analysis in sporadic amyotrophic lateral sclerosis: identification of novel mutations in JOURNAL OF NEUROLOGY
  • 2015-02 Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction in NATURE
  • 2009-03 Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants in NATURE GENETICS
  • 2004-11 Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aα-chain gene in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2002-07 Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families in JOURNAL OF NEUROLOGY
  • 2001-11-01 Characterization of the genomic structure of the human neuronal nicotinic acetylcholine receptor CHRNA5/A3/B4 gene cluster and identification of novel intragenic polymorphisms in JOURNAL OF HUMAN GENETICS
  • 1996-08 Physical mapping of connexin 32 (GJB1) and 43 (GJA1) genes to bovine Chromosomes Xq22 and 9q15/16 by fluorescence in situ hybridization in MAMMALIAN GENOME
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