Yuri Uchiyama


Ontology type: schema:Person     


Person Info

NAME

Yuri

SURNAME

Uchiyama

Publications in SciGraph latest 50 shown

  • 2021-11-13 Father-to-offspring transmission of extremely long NOTCH2NLC repeat expansions with contractions: genetic and epigenetic profiling with long-read sequencing in CLINICAL EPIGENETICS
  • 2021-11-01 Two families with TET3-related disorder showing neurodevelopmental delay with craniofacial dysmorphisms in JOURNAL OF HUMAN GENETICS
  • 2021-09-17 Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic features in JOURNAL OF HUMAN GENETICS
  • 2021-07-07 Novel CLTC variants cause new brain and kidney phenotypes in JOURNAL OF HUMAN GENETICS
  • 2020-12-03 Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia in HUMAN GENOME VARIATION
  • 2020-11-03 Whole exome sequencing of fetal structural anomalies detected by ultrasonography in JOURNAL OF HUMAN GENETICS
  • 2020-09-18 Nonsense variants of STAG2 result in distinct congenital anomalies in HUMAN GENOME VARIATION
  • 2020-06-15 Retraction Note to: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes in JOURNAL OF HUMAN GENETICS
  • 2019-09-17 Genetic abnormalities in a large cohort of Coffin–Siris syndrome patients in JOURNAL OF HUMAN GENETICS
  • 2019-07-23 Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome in JOURNAL OF HUMAN GENETICS
  • 2019-07-16 Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome in JOURNAL OF HUMAN GENETICS
  • 2019-06-18 Primary immunodeficiency with chronic enteropathy and developmental delay in a boy arising from a novel homozygous RIPK1 variant in JOURNAL OF HUMAN GENETICS
  • 2019-06-07 Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy in NATURE COMMUNICATIONS
  • 2019-02-14 RETRACTED ARTICLE: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes in JOURNAL OF HUMAN GENETICS
  • 2018-11-23 RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy in GENETICS IN MEDICINE
  • 2018-04-30 Successful hemostatic management of major surgery for cervical spondylotic myelopathy in a patient with severe factor XI deficiency in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2017-01-12 Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome in SCIENTIFIC REPORTS
  • 2016-10-01 Successful management of perioperative hemostasis in a patient with Glanzmann thrombasthenia who underwent a right total mastectomy in INTERNATIONAL JOURNAL OF HEMATOLOGY
  • 2016-03-09 Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome in SCIENTIFIC REPORTS
  • JSON-LD is the canonical representation for SciGraph data.

    TIP: You can open this SciGraph record using an external JSON-LD service: JSON-LD Playground Google SDTT

    [
      {
        "@context": "https://springernature.github.io/scigraph/jsonld/sgcontext.json", 
        "affiliation": [
          {
            "affiliation": {
              "id": "http://www.grid.ac/institutes/grid.268441.d", 
              "type": "Organization"
            }, 
            "isCurrent": true, 
            "type": "OrganizationRole"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.470126.6", 
            "type": "Organization"
          }, 
          {
            "id": "http://www.grid.ac/institutes/grid.256642.1", 
            "type": "Organization"
          }
        ], 
        "familyName": "Uchiyama", 
        "givenName": "Yuri", 
        "id": "sg:person.01227034056.86", 
        "identifier": [
          {
            "name": "orcid_id", 
            "type": "PropertyValue", 
            "value": "0000-0002-4540-5277"
          }
        ], 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01227034056.86", 
          "https://orcid.org/0000-0002-4540-5277"
        ], 
        "sdDataset": "persons", 
        "sdDatePublished": "2022-01-01T19:58", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-springernature-scigraph/baseset/20220101/entities/gbq_results/person/person_855.jsonl", 
        "type": "Person"
      }
    ]
     

    Download the RDF metadata as:  json-ld nt turtle xml License info

    HOW TO GET THIS DATA PROGRAMMATICALLY:

    JSON-LD is a popular format for linked data which is fully compatible with JSON.

    curl -H 'Accept: application/ld+json' 'https://scigraph.springernature.com/person.01227034056.86'

    N-Triples is a line-based linked data format ideal for batch operations.

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/person.01227034056.86'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/person.01227034056.86'

    RDF/XML is a standard XML format for linked data.

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/person.01227034056.86'


     

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

    25 TRIPLES      11 PREDICATES      15 URIs      8 LITERALS      3 BLANK NODES

    Subject Predicate Object
    1 sg:person.01227034056.86 schema:affiliation N45beb6d264ce4237b309d3482553cecb
    2 grid-institutes:grid.256642.1
    3 grid-institutes:grid.470126.6
    4 schema:familyName Uchiyama
    5 schema:givenName Yuri
    6 schema:identifier Na8bc5421c8544a2ab412123bf8e8cc75
    7 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01227034056.86
    8 https://orcid.org/0000-0002-4540-5277
    9 schema:sdDatePublished 2022-01-01T19:58
    10 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    11 schema:sdPublisher N57a0b0d7d9274d2eb373ba61676b431a
    12 sgo:license sg:explorer/license/
    13 sgo:sdDataset persons
    14 rdf:type schema:Person
    15 N45beb6d264ce4237b309d3482553cecb schema:affiliation grid-institutes:grid.268441.d
    16 sgo:isCurrent true
    17 rdf:type schema:OrganizationRole
    18 N57a0b0d7d9274d2eb373ba61676b431a schema:name Springer Nature - SN SciGraph project
    19 rdf:type schema:Organization
    20 Na8bc5421c8544a2ab412123bf8e8cc75 schema:name orcid_id
    21 schema:value 0000-0002-4540-5277
    22 rdf:type schema:PropertyValue
    23 grid-institutes:grid.256642.1 schema:Organization
    24 grid-institutes:grid.268441.d schema:Organization
    25 grid-institutes:grid.470126.6 schema:Organization
     




    Preview window. Press ESC to close (or click here)


    ...