Noriko Miyake


Ontology type: schema:Person     


Person Info

NAME

Noriko

SURNAME

Miyake

Publications in SciGraph latest 50 shown

  • 2019-04 A novel homozygous truncating variant of NECAP1 in early infantile epileptic encephalopathy: the second case report of EIEE21 in JOURNAL OF HUMAN GENETICS
  • 2019-03 Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases in JOURNAL OF HUMAN GENETICS
  • 2019-03 De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies in EUROPEAN JOURNAL OF HUMAN GENETICS
  • 2018-12 Independent occurrence of de novo HSPD1 and HIP1 variants in brothers with different neurological disorders – leukodystrophy and autism in HUMAN GENOME VARIATION
  • 2018-12 Expanding the phenotype of IBA57 mutations: related leukodystrophy can remain asymptomatic in JOURNAL OF HUMAN GENETICS
  • 2018-12 A novel 8-bp duplication in ADAT3 causes mild intellectual disability in HUMAN GENOME VARIATION
  • 2018-12 A familial case of Galloway-Mowat syndrome due to a novel TP53RK mutation: a case report in BMC MEDICAL GENETICS
  • 2018-11-23 RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy in GENETICS IN MEDICINE
  • 2018-10 A novel SLC9A1 mutation causes cerebellar ataxia in JOURNAL OF HUMAN GENETICS
  • 2018-09 Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification in JOURNAL OF HUMAN GENETICS
  • 2018-06 Dysosteosclerosis is also caused by TNFRSF11A mutation in JOURNAL OF HUMAN GENETICS
  • 2018-05 The second point mutation in PREPL: a case report and literature review in JOURNAL OF HUMAN GENETICS
  • 2018-05 A novel missense SNAP25b mutation in two affected siblings from an Israeli family showing seizures and cerebellar ataxia in JOURNAL OF HUMAN GENETICS
  • 2018-04 A homozygous NOP14 variant is likely to cause recurrent pregnancy loss in JOURNAL OF HUMAN GENETICS
  • 2018-04 Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities in JOURNAL OF HUMAN GENETICS
  • 2018-04 A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features in JOURNAL OF HUMAN GENETICS
  • 2018-04 Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations in JOURNAL OF HUMAN GENETICS
  • 2018-03-08 A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum in HUMAN GENOME VARIATION
  • 2018-03 Novel recessive mutations in MSTO1 cause cerebellar atrophy with pigmentary retinopathy in JOURNAL OF HUMAN GENETICS
  • 2018-02 A novel mutation in SLC1A3 causes episodic ataxia in JOURNAL OF HUMAN GENETICS
  • 2017-12 Corrigendum: Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome in SCIENTIFIC REPORTS
  • 2017-12 Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations in BMC NEPHROLOGY
  • 2017-12 Successful bone marrow transplantation in two sisters with activated phosphoinositide 3-kinase δ syndrome 2 in BONE MARROW TRANSPLANTATION
  • 2017-12 Erratum to: Nephron development and extrarenal features in a child with congenital nephrotic syndrome caused by null LAMB2 mutations in BMC NEPHROLOGY
  • 2017-12 Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies in SCIENTIFIC REPORTS
  • 2017-11-09 A novel DARS2 mutation in a Japanese patient with leukoencephalopathy with brainstem and spinal cord involvement but no lactate elevation in HUMAN GENOME VARIATION
  • 2017-11 An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination in JOURNAL OF HUMAN GENETICS
  • 2017-10-05 Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum in HUMAN GENOME VARIATION
  • 2017-08 Identification of biallelic EXTL3 mutations in a novel type of spondylo-epi-metaphyseal dysplasia in JOURNAL OF HUMAN GENETICS
  • 2017-08 ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome in JOURNAL OF HUMAN GENETICS
  • 2017-07-05 MicroRNA cluster miR-17-92 regulates multiple functionally related voltage-gated potassium channels in chronic neuropathic pain in NATURE COMMUNICATIONS
  • 2017-05 Corrigendum: Novel KCNB1 mutation associated with non-syndromic intellectual disability in JOURNAL OF HUMAN GENETICS
  • 2017-05 Novel KCNB1 mutation associated with non-syndromic intellectual disability in JOURNAL OF HUMAN GENETICS
  • 2017-05 PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder in JOURNAL OF HUMAN GENETICS
  • 2017-05 Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder in JOURNAL OF HUMAN GENETICS
  • 2017-04 Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations in JOURNAL OF HUMAN GENETICS
  • 2017-03 Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia in JOURNAL OF HUMAN GENETICS
  • 2017-03 Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2 in JOURNAL OF HUMAN GENETICS
  • 2016-12 Distal arthrogryposis with variable clinical expression caused by TNNI2 mutation in HUMAN GENOME VARIATION
  • 2016-12 De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis in BMC NEUROLOGY
  • 2016-11 TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia in CEN CASE REPORTS
  • 2016-09 Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay in SCIENTIFIC REPORTS
  • 2016-09 De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux in JOURNAL OF HUMAN GENETICS
  • 2016-09 Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome in SCIENTIFIC REPORTS
  • 2016-09 Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism in JOURNAL OF HUMAN GENETICS
  • 2016-07 WDR45 mutations in three male patients with West syndrome in JOURNAL OF HUMAN GENETICS
  • 2016-07 SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7 in NATURE GENETICS
  • 2016-06 Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations in JOURNAL OF HUMAN GENETICS
  • 2016-06 Human genetic variation database, a reference database of genetic variations in the Japanese population in JOURNAL OF HUMAN GENETICS
  • 2016-05 De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures in JOURNAL OF HUMAN GENETICS
  • 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": "https://www.grid.ac/institutes/grid.268441.d", 
              "type": "Organization"
            }, 
            "isCurrent": true, 
            "type": "OrganizationRole"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.174567.6", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.410821.e", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.419082.6", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.2515.3", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.26999.3d", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.411843.b", 
            "type": "Organization"
          }, 
          {
            "id": "https://www.grid.ac/institutes/grid.38142.3c", 
            "type": "Organization"
          }
        ], 
        "familyName": "Miyake", 
        "givenName": "Noriko", 
        "id": "sg:person.01027727764.75", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027727764.75"
        ], 
        "sdDataset": "persons", 
        "sdDatePublished": "2019-03-07T14:44", 
        "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
        "sdPublisher": {
          "name": "Springer Nature - SN SciGraph project", 
          "type": "Organization"
        }, 
        "sdSource": "s3://com-uberresearch-data-dimensions-researchers-20181010/20181011/dim_researchers/base/researchers_479.json", 
        "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.01027727764.75'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/person.01027727764.75'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/person.01027727764.75'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/person.01027727764.75'


     

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

    30 TRIPLES      10 PREDICATES      18 URIs      7 LITERALS      2 BLANK NODES

    Subject Predicate Object
    1 sg:person.01027727764.75 schema:affiliation N603565426c6846469b6cdc49a853d7f9
    2 https://www.grid.ac/institutes/grid.174567.6
    3 https://www.grid.ac/institutes/grid.2515.3
    4 https://www.grid.ac/institutes/grid.26999.3d
    5 https://www.grid.ac/institutes/grid.38142.3c
    6 https://www.grid.ac/institutes/grid.410821.e
    7 https://www.grid.ac/institutes/grid.411843.b
    8 https://www.grid.ac/institutes/grid.419082.6
    9 schema:familyName Miyake
    10 schema:givenName Noriko
    11 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027727764.75
    12 schema:sdDatePublished 2019-03-07T14:44
    13 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    14 schema:sdPublisher Ne5b635aa95b847a9b04145828f9e3bc0
    15 sgo:license sg:explorer/license/
    16 sgo:sdDataset persons
    17 rdf:type schema:Person
    18 N603565426c6846469b6cdc49a853d7f9 schema:affiliation https://www.grid.ac/institutes/grid.268441.d
    19 sgo:isCurrent true
    20 rdf:type schema:OrganizationRole
    21 Ne5b635aa95b847a9b04145828f9e3bc0 schema:name Springer Nature - SN SciGraph project
    22 rdf:type schema:Organization
    23 https://www.grid.ac/institutes/grid.174567.6 schema:Organization
    24 https://www.grid.ac/institutes/grid.2515.3 schema:Organization
    25 https://www.grid.ac/institutes/grid.268441.d schema:Organization
    26 https://www.grid.ac/institutes/grid.26999.3d schema:Organization
    27 https://www.grid.ac/institutes/grid.38142.3c schema:Organization
    28 https://www.grid.ac/institutes/grid.410821.e schema:Organization
    29 https://www.grid.ac/institutes/grid.411843.b schema:Organization
    30 https://www.grid.ac/institutes/grid.419082.6 schema:Organization
     




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


    ...