Human Genetics View Homepage


Ontology type: schema:Periodical     


Journal Info

START YEAR

1976

PUBLISHER

Springer Berlin Heidelberg

LANGUAGE

de

HOMEPAGE

https://link.springer.com/journal/439

Recent publications latest 20 shown

  • 2022-05-03 Monogenic causes of pigmentary mosaicism
  • 2022-04-30 Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene
  • 2022-04-28 Pharmacogenomics: the low-hanging fruit in the personalized medicine tree
  • 2022-04-16 Validating the knowledge bank approach for personalized prediction of survival in acute myeloid leukemia: a reproducibility study
  • 2022-04-12 Genomics and justice: mitigating the potential harms and inequities that arise from the implementation of genomics in medicine
  • 2022-04-04 Editorial to the Special Issue on “The molecular genetics of hearing and deafness”
  • 2022-03-31 Predicting genes from phenotypes using human phenotype ontology (HPO) terms
  • 2022-03-30 The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification
  • 2022-03-30 Genetic testing for pediatric hearing loss: no time to waste
  • 2022-03-29 Next generation sequencing in neonatology: what does it mean for the next generation?
  • 2022-03-26 Predicting embryonic aneuploidy rate in IVF patients using whole-exome sequencing
  • 2022-03-23 Usher syndrome IIIA: a review of the disorder and preclinical research advances in therapeutic approaches
  • 2022-03-21 CD55-deficiency in Jews of Bukharan descent is caused by the Cromer blood type Dr(a−) variant
  • 2022-03-12 Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene
  • 2022-03-07 Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss
  • 2022-03-06 Signatures of genetic variation in human microRNAs point to processes of positive selection and population-specific disease risks
  • 2022-03-04 Challenges in translational machine learning
  • 2022-03-02 Advancing discovery in hearing research via biologist-friendly access to multi-omic data
  • 2022-02-28 Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid
  • 2022-02-28 Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
  • 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", 
        "contentRating": [
          {
            "author": "snip", 
            "ratingValue": "1.86899995803833", 
            "type": "Rating"
          }, 
          {
            "author": "sjr", 
            "ratingValue": "2.3510000705718994", 
            "type": "Rating"
          }
        ], 
        "description": "

    Human Genetics\u00a0presents original and timely articles on all aspects of human genetics. Coverage includes gene structure and organization; gene expression; mutation detection and analysis; linkage analysis and genetic mapping; physical mapping; cytogenetics and cytogenomics; genome structure and organization; bioinformatics; gene therapy and gene editing; disease association studies; molecular diagnostics; genetic epidemiology; evolutionary genetics; developmental genetics; genotype-phenotype relationships; pharmacogenetics and -genomics; molecular genetics of tumorigenesis; genetics of complex diseases and epistatic interactions; ethical, legal and social issues.

    ", "editor": [ { "familyName": "Cooper", "givenName": "David N.", "type": "Person" } ], "id": "sg:journal.1085982", "inLanguage": [ "de", "en" ], "isAccessibleForFree": false, "issn": [ "0340-6717", "1432-1203" ], "license": "Hybrid", "name": "Human Genetics", "productId": [ { "name": "dimensions_id", "type": "PropertyValue", "value": [ "85982" ] }, { "name": "lccn_id", "type": "PropertyValue", "value": [ "sn 78002490" ] }, { "name": "nlm_unique_id", "type": "PropertyValue", "value": [ "7613873" ] }, { "name": "nsd_ids_id", "type": "PropertyValue", "value": [ "340497" ] }, { "name": "era_ids_id", "type": "PropertyValue", "value": [ "22190" ] } ], "publisher": { "name": "Springer Berlin Heidelberg", "type": "Organization" }, "publisherImprint": "Springer", "sameAs": [ "https://app.dimensions.ai/discover/publication?and_facet_source_title=jour.1085982" ], "sdDataset": "journals", "sdDatePublished": "2022-05-10T11:01", "sdLicense": "https://scigraph.springernature.com/explorer/license/", "sdPublisher": { "name": "Springer Nature - SN SciGraph project", "type": "Organization" }, "sdSource": "s3://com-springernature-scigraph/baseset/20220509/entities/gbq_results/journal/journal_0.jsonl", "startYear": "1976", "type": "Periodical", "url": "https://link.springer.com/journal/439" } ]
     

    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/journal.1085982'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/journal.1085982'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/journal.1085982'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/journal.1085982'


     

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

    61 TRIPLES      20 PREDICATES      28 URIs      24 LITERALS      10 BLANK NODES

    Subject Predicate Object
    1 sg:journal.1085982 schema:contentRating N7b1a150707cb473dac456e57468e43f6
    2 N9b0a57bd5aaf476fb6de99aa95c0af8e
    3 schema:description <p><i>Human Genetics</i> presents original and timely articles on all aspects of human genetics. Coverage includes gene structure and organization; gene expression; mutation detection and analysis; linkage analysis and genetic mapping; physical mapping; cytogenetics and cytogenomics; genome structure and organization; bioinformatics; gene therapy and gene editing; disease association studies; molecular diagnostics; genetic epidemiology; evolutionary genetics; developmental genetics; genotype-phenotype relationships; pharmacogenetics and -genomics; molecular genetics of tumorigenesis; genetics of complex diseases and epistatic interactions; ethical, legal and social issues.</p>
    4 schema:editor N87e6bb92eb834493b03ef6113712af38
    5 schema:inLanguage de
    6 en
    7 schema:isAccessibleForFree false
    8 schema:issn 0340-6717
    9 1432-1203
    10 schema:license Hybrid
    11 schema:name Human Genetics
    12 schema:productId N1bb60dd7eb0240d0bbf625e47a0727d0
    13 N2f54650f369245c1ab0db01bde58eb6e
    14 N3ddf30f814764ec4aee55224d733e388
    15 N7ae3c80ad55c494687dcb15067ea1aa8
    16 N9e9cd4b6ba104536a54b22c98abcd5a7
    17 schema:publisher N34cd88fc1c5d458e84f10aa5a0b9a58b
    18 schema:publisherImprint Springer
    19 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_source_title=jour.1085982
    20 schema:sdDatePublished 2022-05-10T11:01
    21 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    22 schema:sdPublisher N0315e62a2005407a827d7a97140f0422
    23 schema:startYear 1976
    24 schema:url https://link.springer.com/journal/439
    25 sgo:license sg:explorer/license/
    26 sgo:sdDataset journals
    27 rdf:type schema:Periodical
    28 N0315e62a2005407a827d7a97140f0422 schema:name Springer Nature - SN SciGraph project
    29 rdf:type schema:Organization
    30 N1bb60dd7eb0240d0bbf625e47a0727d0 schema:name nlm_unique_id
    31 schema:value 7613873
    32 rdf:type schema:PropertyValue
    33 N234c54d2e7d2476881d1fc5f31daef06 rdf:first sjr
    34 rdf:rest rdf:nil
    35 N2f54650f369245c1ab0db01bde58eb6e schema:name dimensions_id
    36 schema:value 85982
    37 rdf:type schema:PropertyValue
    38 N34cd88fc1c5d458e84f10aa5a0b9a58b schema:name Springer Berlin Heidelberg
    39 rdf:type schema:Organization
    40 N3ddf30f814764ec4aee55224d733e388 schema:name lccn_id
    41 schema:value sn 78002490
    42 rdf:type schema:PropertyValue
    43 N7ae3c80ad55c494687dcb15067ea1aa8 schema:name era_ids_id
    44 schema:value 22190
    45 rdf:type schema:PropertyValue
    46 N7b1a150707cb473dac456e57468e43f6 schema:author N234c54d2e7d2476881d1fc5f31daef06
    47 schema:ratingValue 2.3510000705718994
    48 rdf:type schema:Rating
    49 N7bc5c572d3e74bcd9cead1e7f3e7d566 rdf:first snip
    50 rdf:rest rdf:nil
    51 N87e6bb92eb834493b03ef6113712af38 rdf:first Nab3aa28d77054ae1bc94407b7ec4ca1b
    52 rdf:rest rdf:nil
    53 N9b0a57bd5aaf476fb6de99aa95c0af8e schema:author N7bc5c572d3e74bcd9cead1e7f3e7d566
    54 schema:ratingValue 1.86899995803833
    55 rdf:type schema:Rating
    56 N9e9cd4b6ba104536a54b22c98abcd5a7 schema:name nsd_ids_id
    57 schema:value 340497
    58 rdf:type schema:PropertyValue
    59 Nab3aa28d77054ae1bc94407b7ec4ca1b schema:familyName Cooper
    60 schema:givenName David N.
    61 rdf:type schema:Person
     




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


    ...