Gudny A Arnadottir


Ontology type: schema:Person     


Person Info

NAME

Gudny A

SURNAME

Arnadottir

Publications in SciGraph latest 50 shown

  • 2019-02 A loss-of-function variant in ALOX15 protects against nasal polyps and chronic rhinosinusitis in NATURE GENETICS
  • 2018-12 Genome-wide association meta-analysis yields 20 loci associated with gallstone disease in NATURE COMMUNICATIONS
  • 2018-12 A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease in NATURE COMMUNICATIONS
  • 2018-12 A rare missense variant in NR1H4 associates with lower cholesterol levels in COMMUNICATIONS BIOLOGY
  • 2018-12 A truncating mutation in EPOR leads to hypo-responsiveness to erythropoietin with normal haemoglobin in COMMUNICATIONS BIOLOGY
  • 2018-12 Variants associating with uterine leiomyoma highlight genetic background shared by various cancers and hormone-related traits in NATURE COMMUNICATIONS
  • 2018-11-05 Multiple transmissions of de novo mutations in families in NATURE GENETICS
  • 2017-12 Sequence variant at 4q25 near PITX2 associates with appendicitis in SCIENTIFIC REPORTS
  • 2017-12 Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters in BMC MEDICAL GENETICS
  • 2017-12 COPA syndrome in an Icelandic family caused by a recurrent missense mutation in COPA in BMC MEDICAL GENETICS
  • 2017-09-21 Whole genome characterization of sequence diversity of 15,220 Icelanders in SCIENTIFIC DATA
  • 2017-09 Parental influence on human germline de novo mutations in 1,548 trios from Iceland in NATURE
  • 2016-11-16 Epigenetic and genetic components of height regulation in NATURE COMMUNICATIONS
  • 2016-02-03 Common and rare variants associating with serum levels of creatine kinase and lactate dehydrogenase in NATURE COMMUNICATIONS
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    Download the RDF metadata as:  json-ld nt turtle xml License info

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    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/person.0777325667.55'

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    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/person.0777325667.55'

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    This table displays all metadata directly associated to this object as RDF triples.

    11 TRIPLES      9 PREDICATES      10 URIs      6 LITERALS      1 BLANK NODES

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    2 schema:givenName Gudny A
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    5 schema:sdLicense https://scigraph.springernature.com/explorer/license/
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    8 sgo:sdDataset persons
    9 rdf:type schema:Person
    10 N511ebe24da644fb28604884bc0a56acb schema:name Springer Nature - SN SciGraph project
    11 rdf:type schema:Organization
     




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