BMC Medical Genetics View Homepage


Ontology type: schema:Periodical      Open Access: True


Journal Info

START YEAR

2000

PUBLISHER

BioMed Central

LANGUAGE

en

HOMEPAGE

http://bmcmedgenet.biomedcentral.com/

Recent publications latest 20 shown

  • 2019-12 Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss.
  • 2019-12 Exome genotyping and linkage analysis identifies two novel linked regions and replicates two others for myopia in Ashkenazi Jewish families
  • 2019-12 A novel mutation in the OAR domain of PITX3 associated with congenital posterior subcapsular cataract
  • 2019-12 An immunocompetent patient with a nonsense mutation in NHEJ1 gene
  • 2019-12 Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family
  • 2019-12 Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation
  • 2019-12 Novel mutations of STXBP2 and LYST associated with adult haemophagocytic lymphohistiocytosis with Epstein-Barr virus infection: a case report
  • 2019-12 TNFSF15 promoter polymorphisms increase the susceptibility to small cell lung cancer: a case-control study
  • 2019-12 Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease
  • 2019-12 ATM rs189037 (G > A) polymorphism increased the risk of cancer: an updated meta-analysis
  • 2019-12 Association study between KIR polymorphisms and rheumatoid arthritis disease: an updated meta-analysis
  • 2019-12 Polymorphisms in IL36G gene are associated with plaque psoriasis
  • 2019-12 Evidence for long noncoding RNA GAS5 up-regulationin patients with Klinefelter syndrome
  • 2019-12 A novel PHKA2 mutation in a Chinese child with glycogen storage disease type IXa: a case report and literature review
  • 2019-12 Weighted correlation network and differential expression analyses identify candidate genes associated with BRAF gene in melanoma
  • 2019-12 A novel pathogenic variant in OSBPL2 linked to hereditary late-onset deafness in a Mongolian family
  • 2019-12 X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review
  • 2019-12 The association between interleukin-6 gene -174G/C single nucleotide polymorphism and sepsis: an updated meta-analysis with trial sequential analysis
  • 2019-12 Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations
  • 2019-12 Association between the insulin-like growth factor 1 gene rs2195239 and rs2162679 polymorphisms and cancer risk: a meta-analysis
  • 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", 
        "about": [
          {
            "id": "http://scigraph.springernature.com/ontologies/product-market-codes/B12008", 
            "inDefinedTermSet": "http://scigraph.springernature.com/ontologies/product-market-codes/", 
            "name": "Human Genetics", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://scigraph.springernature.com/ontologies/product-market-codes/B12040", 
            "inDefinedTermSet": "http://scigraph.springernature.com/ontologies/product-market-codes/", 
            "name": "Cytogenetics", 
            "type": "DefinedTerm"
          }, 
          {
            "id": "http://scigraph.springernature.com/ontologies/product-market-codes/B12030", 
            "inDefinedTermSet": "http://scigraph.springernature.com/ontologies/product-market-codes/", 
            "name": "Gene Function", 
            "type": "DefinedTerm"
          }
        ], 
        "contentRating": [
          {
            "author": "snip", 
            "ratingValue": "0.848", 
            "type": "Rating"
          }, 
          {
            "author": "sjr", 
            "ratingValue": "1.109", 
            "type": "Rating"
          }, 
          {
            "author": "impact_factor_wos", 
            "dateCreated": "2017", 
            "ratingValue": "1.913", 
            "type": "Rating"
          }, 
          {
            "author": "impact_factor_wos", 
            "dateCreated": "2016", 
            "ratingValue": "2.198", 
            "type": "Rating"
          }, 
          {
            "author": "impact_factor_wos", 
            "dateCreated": "2015", 
            "ratingValue": "2.094", 
            "type": "Rating"
          }, 
          {
            "author": "impact_factor_wos", 
            "dateCreated": "2014", 
            "ratingValue": "2.083", 
            "type": "Rating"
          }, 
          {
            "author": "impact_factor_wos", 
            "dateCreated": "2013", 
            "ratingValue": "2.450", 
            "type": "Rating"
          }, 
          {
            "author": "impact_factor_wos", 
            "dateCreated": "2009", 
            "ratingValue": "2.840", 
            "type": "Rating"
          }, 
          {
            "author": "impact_factor_wos", 
            "dateCreated": "2012", 
            "ratingValue": "2.536", 
            "type": "Rating"
          }, 
          {
            "author": "impact_factor_wos", 
            "dateCreated": "2011", 
            "ratingValue": "2.328", 
            "type": "Rating"
          }, 
          {
            "author": "impact_factor_wos", 
            "dateCreated": "2010", 
            "ratingValue": "2.439", 
            "type": "Rating"
          }
        ], 
        "description": "

    With a high global visibility of over 70,000 visits a month, BMC Medical Genetics is an open access journal providing a high-quality peer-review service. We welcome submissions on genetic variation, gene expression, epigenetic regulation and pharmacogenetics in individuals, families and among populations in relation to human health and disease. This journal is part of the BMC series, a research community-focused collection publishing scientifically valid studies based on community-agreed standards of questioning, methods and analysis.

    ", "id": "sg:journal.1024947", "inLanguage": [ "en" ], "isAccessibleForFree": true, "issn": [ "1471-2350" ], "license": "Fully Open Access", "name": "BMC Medical Genetics", "productId": [ { "name": "dimensions_id", "type": "PropertyValue", "value": [ "24947" ] }, { "name": "springer_id", "type": "PropertyValue", "value": [ "12881" ] }, { "name": "lccn_id", "type": "PropertyValue", "value": [ "2002243094" ] }, { "name": "wos_id", "type": "PropertyValue", "value": [ "1471-2350/BMC MEDICAL GENETICS" ] }, { "name": "scopus_id", "type": "PropertyValue", "value": [ "21729" ] }, { "name": "nlm_unique_id", "type": "PropertyValue", "value": [ "100968552" ] }, { "name": "nsd_ids_id", "type": "PropertyValue", "value": [ "438557" ] }, { "name": "era_ids_id", "type": "PropertyValue", "value": [ "15808" ] } ], "publisher": { "name": "BioMed Central", "type": "Organization" }, "publisherImprint": "BioMed Central", "sameAs": [ "https://app.dimensions.ai/discover/publication?and_facet_source_title=jour.1024947" ], "sdDataset": "journals", "sdDatePublished": "2021-01-20T04:59", "sdLicense": "https://scigraph.springernature.com/explorer/license/", "sdPublisher": { "name": "Springer Nature - SN SciGraph project", "type": "Organization" }, "sdSource": "file:///pack/app/journals_20190313_sn_only.jsonl", "startYear": "2000", "type": "Periodical", "url": "http://bmcmedgenet.biomedcentral.com/" } ]
     

    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.1024947'

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

    curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/journal.1024947'

    Turtle is a human-readable linked data format.

    curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/journal.1024947'

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

    curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/journal.1024947'


     

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

    140 TRIPLES      20 PREDICATES      40 URIs      33 LITERALS      21 BLANK NODES

    Subject Predicate Object
    1 sg:journal.1024947 schema:about sg:ontologies/product-market-codes/B12008
    2 sg:ontologies/product-market-codes/B12030
    3 sg:ontologies/product-market-codes/B12040
    4 schema:contentRating N19deff4813834e83b0da15de5700b3d7
    5 N21f0b47d2ee44ffebf09eb50562b4088
    6 N3c591430c5524667818b302bf5d0eea1
    7 N56d0088712164d14997d1da09b06b8ee
    8 N5fead5716b0147829fe989bd6c19f111
    9 N6affca33f87d4d3d9aea69ec0a51e91b
    10 N8266b96248244a9c9936ac23032b2ef7
    11 N85870e78117b438798debceb99c1d9f4
    12 Nacc3a2a7444c41b48dbba7b8018f7e82
    13 Nd118642f9b904be7b8551ea9a9f63e03
    14 Ndfc1ba4782ed4a6b95ba9223f19e85cd
    15 schema:description <p>With a high global visibility of over 70,000 visits a month, <i>BMC Medical Genetics</i> is an open access journal providing a high-quality peer-review service. We welcome submissions on genetic variation, gene expression, epigenetic regulation and pharmacogenetics in individuals, families and among populations in relation to human health and disease. This journal is part of the <i>BMC</i> series, a research community-focused collection publishing scientifically valid studies based on community-agreed standards of questioning, methods and analysis.</p>
    16 schema:inLanguage en
    17 schema:isAccessibleForFree true
    18 schema:issn 1471-2350
    19 schema:license Fully Open Access
    20 schema:name BMC Medical Genetics
    21 schema:productId N2563c76803cd410cb62d11880dd98d85
    22 N5c557403fe4d44c88157705b5cea94fb
    23 N69382cdfe40247bba1387af763bbaa15
    24 N79da662f0cf64d21b9179b59b145fa1f
    25 N88fc460c620b4ed7a8768af524c75559
    26 Nb529799fb23540b2b1e319d5b16e8e21
    27 Ndbb40c2e6156408e893911ff8fc0101a
    28 Nf66a4122856a4317b2c6bce01c17feea
    29 schema:publisher N9057993552e74f3c9d4d8b75eb7eff86
    30 schema:publisherImprint BioMed Central
    31 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_source_title=jour.1024947
    32 schema:sdDatePublished 2021-01-20T04:59
    33 schema:sdLicense https://scigraph.springernature.com/explorer/license/
    34 schema:sdPublisher Ncc32aa48ffbd4483b46626d178337f4a
    35 schema:startYear 2000
    36 schema:url http://bmcmedgenet.biomedcentral.com/
    37 sgo:license sg:explorer/license/
    38 sgo:sdDataset journals
    39 rdf:type schema:Periodical
    40 N19deff4813834e83b0da15de5700b3d7 schema:author Ndf50e02069ae4d72bb94eb9bf5cb70f2
    41 schema:dateCreated 2014
    42 schema:ratingValue 2.083
    43 rdf:type schema:Rating
    44 N21f0b47d2ee44ffebf09eb50562b4088 schema:author Nf687b2a636f845dd88de5ecb6cf54a6f
    45 schema:dateCreated 2015
    46 schema:ratingValue 2.094
    47 rdf:type schema:Rating
    48 N2563c76803cd410cb62d11880dd98d85 schema:name nsd_ids_id
    49 schema:value 438557
    50 rdf:type schema:PropertyValue
    51 N3c591430c5524667818b302bf5d0eea1 schema:author Ne6fefaacf75442898079ba53ef04ee5c
    52 schema:ratingValue 1.109
    53 rdf:type schema:Rating
    54 N3db7f49fd6c9442cabe5c465c7484dc6 rdf:first impact_factor_wos
    55 rdf:rest rdf:nil
    56 N3f2dfb8e3a84484d88849274d5d54877 rdf:first snip
    57 rdf:rest rdf:nil
    58 N4ad8c297635545d5979de91ce61ec699 rdf:first impact_factor_wos
    59 rdf:rest rdf:nil
    60 N56d0088712164d14997d1da09b06b8ee schema:author Ne2fe1c3a66934924a3e3862b2ff8b684
    61 schema:dateCreated 2017
    62 schema:ratingValue 1.913
    63 rdf:type schema:Rating
    64 N5c557403fe4d44c88157705b5cea94fb schema:name nlm_unique_id
    65 schema:value 100968552
    66 rdf:type schema:PropertyValue
    67 N5fead5716b0147829fe989bd6c19f111 schema:author Neab6ac150e624a0299d0f1026fb14574
    68 schema:dateCreated 2016
    69 schema:ratingValue 2.198
    70 rdf:type schema:Rating
    71 N69382cdfe40247bba1387af763bbaa15 schema:name dimensions_id
    72 schema:value 24947
    73 rdf:type schema:PropertyValue
    74 N6affca33f87d4d3d9aea69ec0a51e91b schema:author Ne72e885df7024c2cb7f8857f1ab08c9b
    75 schema:dateCreated 2010
    76 schema:ratingValue 2.439
    77 rdf:type schema:Rating
    78 N79da662f0cf64d21b9179b59b145fa1f schema:name scopus_id
    79 schema:value 21729
    80 rdf:type schema:PropertyValue
    81 N8266b96248244a9c9936ac23032b2ef7 schema:author N9e15b77fc89d4db49aab553e275a49e7
    82 schema:dateCreated 2012
    83 schema:ratingValue 2.536
    84 rdf:type schema:Rating
    85 N85870e78117b438798debceb99c1d9f4 schema:author N3db7f49fd6c9442cabe5c465c7484dc6
    86 schema:dateCreated 2009
    87 schema:ratingValue 2.840
    88 rdf:type schema:Rating
    89 N8642a635534e4931be4f7fd5d298fc45 rdf:first impact_factor_wos
    90 rdf:rest rdf:nil
    91 N88fc460c620b4ed7a8768af524c75559 schema:name era_ids_id
    92 schema:value 15808
    93 rdf:type schema:PropertyValue
    94 N9057993552e74f3c9d4d8b75eb7eff86 schema:name BioMed Central
    95 rdf:type schema:Organization
    96 N9e15b77fc89d4db49aab553e275a49e7 rdf:first impact_factor_wos
    97 rdf:rest rdf:nil
    98 Nacc3a2a7444c41b48dbba7b8018f7e82 schema:author N4ad8c297635545d5979de91ce61ec699
    99 schema:dateCreated 2011
    100 schema:ratingValue 2.328
    101 rdf:type schema:Rating
    102 Nb529799fb23540b2b1e319d5b16e8e21 schema:name wos_id
    103 schema:value 1471-2350/BMC MEDICAL GENETICS
    104 rdf:type schema:PropertyValue
    105 Ncc32aa48ffbd4483b46626d178337f4a schema:name Springer Nature - SN SciGraph project
    106 rdf:type schema:Organization
    107 Nd118642f9b904be7b8551ea9a9f63e03 schema:author N3f2dfb8e3a84484d88849274d5d54877
    108 schema:ratingValue 0.848
    109 rdf:type schema:Rating
    110 Ndbb40c2e6156408e893911ff8fc0101a schema:name springer_id
    111 schema:value 12881
    112 rdf:type schema:PropertyValue
    113 Ndf50e02069ae4d72bb94eb9bf5cb70f2 rdf:first impact_factor_wos
    114 rdf:rest rdf:nil
    115 Ndfc1ba4782ed4a6b95ba9223f19e85cd schema:author N8642a635534e4931be4f7fd5d298fc45
    116 schema:dateCreated 2013
    117 schema:ratingValue 2.450
    118 rdf:type schema:Rating
    119 Ne2fe1c3a66934924a3e3862b2ff8b684 rdf:first impact_factor_wos
    120 rdf:rest rdf:nil
    121 Ne6fefaacf75442898079ba53ef04ee5c rdf:first sjr
    122 rdf:rest rdf:nil
    123 Ne72e885df7024c2cb7f8857f1ab08c9b rdf:first impact_factor_wos
    124 rdf:rest rdf:nil
    125 Neab6ac150e624a0299d0f1026fb14574 rdf:first impact_factor_wos
    126 rdf:rest rdf:nil
    127 Nf66a4122856a4317b2c6bce01c17feea schema:name lccn_id
    128 schema:value 2002243094
    129 rdf:type schema:PropertyValue
    130 Nf687b2a636f845dd88de5ecb6cf54a6f rdf:first impact_factor_wos
    131 rdf:rest rdf:nil
    132 sg:ontologies/product-market-codes/B12008 schema:inDefinedTermSet sg:ontologies/product-market-codes/
    133 schema:name Human Genetics
    134 rdf:type schema:DefinedTerm
    135 sg:ontologies/product-market-codes/B12030 schema:inDefinedTermSet sg:ontologies/product-market-codes/
    136 schema:name Gene Function
    137 rdf:type schema:DefinedTerm
    138 sg:ontologies/product-market-codes/B12040 schema:inDefinedTermSet sg:ontologies/product-market-codes/
    139 schema:name Cytogenetics
    140 rdf:type schema:DefinedTerm
     




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


    ...