Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-12

AUTHORS

Lana Stavber, Sara Bertok, Jernej Kovač, Marija Volk, Luca Lovrečić, Tadej Battelino, Tinka Hovnik

ABSTRACT

BACKGROUND: The majority of small supernumerary marker chromosome cases arise de novo and their frequency in newborns is 0.04%. We report on a girl with developmental delay and dysmorphic features with a non-mosaic de novo sSMC that originated from the pericentric region of q arm in chromosome 17. CASE PRESENTATION: The girl presented with developmental delay, speech delay, myopia, mild muscle hypotonia, hypoplasia of orbicular muscle, poor concentration, and hyperactivity. Main dysmorphic features included: round face, microstomia, small chin, down-slanting palpebral fissures and small lobules of both ears. At present, her developmental abilities are still delayed for her chronological age but she is making evident progress with speech. A postnatal array comparative genomic hybridization showed a 2.31 Mb genomic gain indicating microduplication derived from pericentric regions q11.1 and q11.2 of chromosome 17. Additional conventional cytogenetic analysis from peripheral blood characterized the karyotype as 47,XX,+mar in a non-mosaic form. The location of microduplication was confirmed with fluorescence in situ hybridization. CONCLUSION: The proband's microduplication encompassed approximately 40 annotated genes, several of which have been associated with phenotypic characteristics of the proband. This is the first report of sSMC 17 including this particular chromosomal region in non-mosaic form. More... »

PAGES

10

Identifiers

URI

http://scigraph.springernature.com/pub.10.1186/s13039-017-0312-x

DOI

http://dx.doi.org/10.1186/s13039-017-0312-x

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1084251876

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28344653


Indexing Status Check whether this publication has been indexed by Scopus and Web Of Science using the SN Indexing Status Tool
Incoming Citations Browse incoming citations for this publication using opencitations.net

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://purl.org/au-research/vocabulary/anzsrc-for/2008/0604", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Genetics", 
        "type": "DefinedTerm"
      }, 
      {
        "id": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Ljubljana University Medical Centre", 
          "id": "https://www.grid.ac/institutes/grid.29524.38", 
          "name": [
            "University Children\u2019s Hospital, University Medical Centre Ljubljana, Unit for Special Laboratory Diagnostic, Vrazov trg 1, SI-1525, Ljubljana, Slovenia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Stavber", 
        "givenName": "Lana", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ljubljana University Medical Centre", 
          "id": "https://www.grid.ac/institutes/grid.29524.38", 
          "name": [
            "Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children\u2019s Hospital, UMC, Ljubljana, Slovenia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bertok", 
        "givenName": "Sara", 
        "id": "sg:person.01321524720.01", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01321524720.01"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ljubljana University Medical Centre", 
          "id": "https://www.grid.ac/institutes/grid.29524.38", 
          "name": [
            "University Children\u2019s Hospital, University Medical Centre Ljubljana, Unit for Special Laboratory Diagnostic, Vrazov trg 1, SI-1525, Ljubljana, Slovenia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Kova\u010d", 
        "givenName": "Jernej", 
        "id": "sg:person.0664527111.31", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0664527111.31"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ljubljana University Medical Centre", 
          "id": "https://www.grid.ac/institutes/grid.29524.38", 
          "name": [
            "Clinical Institute of Medical Genetic, UMC, Ljubljana, Slovenia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Volk", 
        "givenName": "Marija", 
        "id": "sg:person.01337202673.28", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01337202673.28"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ljubljana University Medical Centre", 
          "id": "https://www.grid.ac/institutes/grid.29524.38", 
          "name": [
            "Clinical Institute of Medical Genetic, UMC, Ljubljana, Slovenia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Lovre\u010di\u0107", 
        "givenName": "Luca", 
        "id": "sg:person.0733504327.25", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0733504327.25"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Ljubljana", 
          "id": "https://www.grid.ac/institutes/grid.8954.0", 
          "name": [
            "Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children\u2019s Hospital, UMC, Ljubljana, Slovenia", 
            "Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Battelino", 
        "givenName": "Tadej", 
        "id": "sg:person.01222441663.40", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01222441663.40"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ljubljana University Medical Centre", 
          "id": "https://www.grid.ac/institutes/grid.29524.38", 
          "name": [
            "University Children\u2019s Hospital, University Medical Centre Ljubljana, Unit for Special Laboratory Diagnostic, Vrazov trg 1, SI-1525, Ljubljana, Slovenia"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Hovnik", 
        "givenName": "Tinka", 
        "id": "sg:person.01053250165.20", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01053250165.20"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1126/science.1258366", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1000703165"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/s0925-4773(02)00238-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001278372"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nrn2214", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1001613545", 
          "https://doi.org/10.1038/nrn2214"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.tjog.2016.05.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004419955"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.ejmg.2012.01.010", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1007128786"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/978-3-642-20766-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015037951", 
          "https://doi.org/10.1007/978-3-642-20766-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/978-3-642-20766-2", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1015037951", 
          "https://doi.org/10.1007/978-3-642-20766-2"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.febslet.2006.06.043", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1025798508"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.38.12.885", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1027713475"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1755-8166-3-8", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1029996752", 
          "https://doi.org/10.1186/1755-8166-3-8"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.psychres.2015.03.022", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033147069"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1755-8166-3-11", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033580054", 
          "https://doi.org/10.1186/1755-8166-3-11"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000079572", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1034588137"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1159/000074163", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1035160256"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/(sici)1096-8628(19980428)77:1<19::aid-ajmg5>3.0.co;2-g", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1041429784"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.3892/ijmm.19.5.719", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1071506593"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.4252/wjsc.v7.i3.605", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1072402373"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2017-12", 
    "datePublishedReg": "2017-12-01", 
    "description": "BACKGROUND: The majority of small supernumerary marker chromosome cases arise de novo and their frequency in newborns is 0.04%. We report on a girl with developmental delay and dysmorphic features with a non-mosaic de novo sSMC that originated from the pericentric region of q arm in chromosome 17.\nCASE PRESENTATION: The girl presented with developmental delay, speech delay, myopia, mild muscle hypotonia, hypoplasia of orbicular muscle, poor concentration, and hyperactivity. Main dysmorphic features included: round face, microstomia, small chin, down-slanting palpebral fissures and small lobules of both ears. At present, her developmental abilities are still delayed for her chronological age but she is making evident progress with speech. A postnatal array comparative genomic hybridization showed a 2.31\u00a0Mb genomic gain indicating microduplication derived from pericentric regions q11.1 and q11.2 of chromosome 17. Additional conventional cytogenetic analysis from peripheral blood characterized the karyotype as 47,XX,+mar in a non-mosaic form. The location of microduplication was confirmed with fluorescence in situ hybridization.\nCONCLUSION: The proband's microduplication encompassed approximately 40 annotated genes, several of which have been associated with phenotypic characteristics of the proband. This is the first report of sSMC 17 including this particular chromosomal region in non-mosaic form.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1186/s13039-017-0312-x", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": true, 
    "isPartOf": [
      {
        "id": "sg:journal.1039110", 
        "issn": [
          "1755-8166"
        ], 
        "name": "Molecular Cytogenetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "10"
      }
    ], 
    "name": "Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features", 
    "pagination": "10", 
    "productId": [
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "a5245edfc62468b7b28ddbf6edc5a03b113cc1c6c4b1591a0610d6cd754e25f0"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "28344653"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "101317942"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1186/s13039-017-0312-x"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1084251876"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1186/s13039-017-0312-x", 
      "https://app.dimensions.ai/details/publication/pub.1084251876"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-11T10:16", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-uberresearch-data-dimensions-target-20181106-alternative/cleanup/v134/2549eaecd7973599484d7c17b260dba0a4ecb94b/merge/v9/a6c9fde33151104705d4d7ff012ea9563521a3ce/jats-lookup/v90/0000000348_0000000348/records_54301_00000001.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1186%2Fs13039-017-0312-x"
  }
]
 

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/pub.10.1186/s13039-017-0312-x'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1186/s13039-017-0312-x'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1186/s13039-017-0312-x'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1186/s13039-017-0312-x'


 

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

167 TRIPLES      21 PREDICATES      45 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1186/s13039-017-0312-x schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author N4ab5afc605ad41629074c3448f75f73a
4 schema:citation sg:pub.10.1007/978-3-642-20766-2
5 sg:pub.10.1038/nrn2214
6 sg:pub.10.1186/1755-8166-3-11
7 sg:pub.10.1186/1755-8166-3-8
8 https://doi.org/10.1002/(sici)1096-8628(19980428)77:1<19::aid-ajmg5>3.0.co;2-g
9 https://doi.org/10.1016/j.ejmg.2012.01.010
10 https://doi.org/10.1016/j.febslet.2006.06.043
11 https://doi.org/10.1016/j.psychres.2015.03.022
12 https://doi.org/10.1016/j.tjog.2016.05.002
13 https://doi.org/10.1016/s0925-4773(02)00238-1
14 https://doi.org/10.1126/science.1258366
15 https://doi.org/10.1136/jmg.38.12.885
16 https://doi.org/10.1159/000074163
17 https://doi.org/10.1159/000079572
18 https://doi.org/10.3892/ijmm.19.5.719
19 https://doi.org/10.4252/wjsc.v7.i3.605
20 schema:datePublished 2017-12
21 schema:datePublishedReg 2017-12-01
22 schema:description BACKGROUND: The majority of small supernumerary marker chromosome cases arise de novo and their frequency in newborns is 0.04%. We report on a girl with developmental delay and dysmorphic features with a non-mosaic de novo sSMC that originated from the pericentric region of q arm in chromosome 17. CASE PRESENTATION: The girl presented with developmental delay, speech delay, myopia, mild muscle hypotonia, hypoplasia of orbicular muscle, poor concentration, and hyperactivity. Main dysmorphic features included: round face, microstomia, small chin, down-slanting palpebral fissures and small lobules of both ears. At present, her developmental abilities are still delayed for her chronological age but she is making evident progress with speech. A postnatal array comparative genomic hybridization showed a 2.31 Mb genomic gain indicating microduplication derived from pericentric regions q11.1 and q11.2 of chromosome 17. Additional conventional cytogenetic analysis from peripheral blood characterized the karyotype as 47,XX,+mar in a non-mosaic form. The location of microduplication was confirmed with fluorescence in situ hybridization. CONCLUSION: The proband's microduplication encompassed approximately 40 annotated genes, several of which have been associated with phenotypic characteristics of the proband. This is the first report of sSMC 17 including this particular chromosomal region in non-mosaic form.
23 schema:genre research_article
24 schema:inLanguage en
25 schema:isAccessibleForFree true
26 schema:isPartOf Nb1e2d7644cb444c3ab01a9d44af230d5
27 Nf5e85b939ba24163a1a83cb7fb30ae19
28 sg:journal.1039110
29 schema:name Characterization of a de novo sSMC 17 detected in a girl with developmental delay and dysmorphic features
30 schema:pagination 10
31 schema:productId N08a18d09d4744de6971de489d5593080
32 N2fc9f5638c8341209e507bde55a907c5
33 N4809d724d0a64a2984d1ccf2dfb9c633
34 N521ea95a91bb4fda86501529c87c9a33
35 Ne12b21b78e014b5d9f09aecf3776c684
36 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084251876
37 https://doi.org/10.1186/s13039-017-0312-x
38 schema:sdDatePublished 2019-04-11T10:16
39 schema:sdLicense https://scigraph.springernature.com/explorer/license/
40 schema:sdPublisher Nca2aee4f57474320a74a0f984900938a
41 schema:url https://link.springer.com/10.1186%2Fs13039-017-0312-x
42 sgo:license sg:explorer/license/
43 sgo:sdDataset articles
44 rdf:type schema:ScholarlyArticle
45 N08a18d09d4744de6971de489d5593080 schema:name doi
46 schema:value 10.1186/s13039-017-0312-x
47 rdf:type schema:PropertyValue
48 N269f177d7de64ab487f0e374dc3e7e17 schema:affiliation https://www.grid.ac/institutes/grid.29524.38
49 schema:familyName Stavber
50 schema:givenName Lana
51 rdf:type schema:Person
52 N2fc9f5638c8341209e507bde55a907c5 schema:name nlm_unique_id
53 schema:value 101317942
54 rdf:type schema:PropertyValue
55 N4809d724d0a64a2984d1ccf2dfb9c633 schema:name dimensions_id
56 schema:value pub.1084251876
57 rdf:type schema:PropertyValue
58 N4ab5afc605ad41629074c3448f75f73a rdf:first N269f177d7de64ab487f0e374dc3e7e17
59 rdf:rest N7457056ef3844ed79515e51982ecb654
60 N521ea95a91bb4fda86501529c87c9a33 schema:name pubmed_id
61 schema:value 28344653
62 rdf:type schema:PropertyValue
63 N7457056ef3844ed79515e51982ecb654 rdf:first sg:person.01321524720.01
64 rdf:rest Nc3c55c92848a45499044e1582eb3dc29
65 N7e1ad00ba7744b9ab5fda83969306f74 rdf:first sg:person.01337202673.28
66 rdf:rest Na1d9491ff7e74425b609153b97d5a15e
67 Na1d9491ff7e74425b609153b97d5a15e rdf:first sg:person.0733504327.25
68 rdf:rest Ncb1292c08859402d860f471b4a501aa8
69 Nb1e2d7644cb444c3ab01a9d44af230d5 schema:volumeNumber 10
70 rdf:type schema:PublicationVolume
71 Nb7bac1f3462a4f64b360a958e9968d74 rdf:first sg:person.01053250165.20
72 rdf:rest rdf:nil
73 Nc3c55c92848a45499044e1582eb3dc29 rdf:first sg:person.0664527111.31
74 rdf:rest N7e1ad00ba7744b9ab5fda83969306f74
75 Nca2aee4f57474320a74a0f984900938a schema:name Springer Nature - SN SciGraph project
76 rdf:type schema:Organization
77 Ncb1292c08859402d860f471b4a501aa8 rdf:first sg:person.01222441663.40
78 rdf:rest Nb7bac1f3462a4f64b360a958e9968d74
79 Ne12b21b78e014b5d9f09aecf3776c684 schema:name readcube_id
80 schema:value a5245edfc62468b7b28ddbf6edc5a03b113cc1c6c4b1591a0610d6cd754e25f0
81 rdf:type schema:PropertyValue
82 Nf5e85b939ba24163a1a83cb7fb30ae19 schema:issueNumber 1
83 rdf:type schema:PublicationIssue
84 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
85 schema:name Biological Sciences
86 rdf:type schema:DefinedTerm
87 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
88 schema:name Genetics
89 rdf:type schema:DefinedTerm
90 sg:journal.1039110 schema:issn 1755-8166
91 schema:name Molecular Cytogenetics
92 rdf:type schema:Periodical
93 sg:person.01053250165.20 schema:affiliation https://www.grid.ac/institutes/grid.29524.38
94 schema:familyName Hovnik
95 schema:givenName Tinka
96 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01053250165.20
97 rdf:type schema:Person
98 sg:person.01222441663.40 schema:affiliation https://www.grid.ac/institutes/grid.8954.0
99 schema:familyName Battelino
100 schema:givenName Tadej
101 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01222441663.40
102 rdf:type schema:Person
103 sg:person.01321524720.01 schema:affiliation https://www.grid.ac/institutes/grid.29524.38
104 schema:familyName Bertok
105 schema:givenName Sara
106 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01321524720.01
107 rdf:type schema:Person
108 sg:person.01337202673.28 schema:affiliation https://www.grid.ac/institutes/grid.29524.38
109 schema:familyName Volk
110 schema:givenName Marija
111 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01337202673.28
112 rdf:type schema:Person
113 sg:person.0664527111.31 schema:affiliation https://www.grid.ac/institutes/grid.29524.38
114 schema:familyName Kovač
115 schema:givenName Jernej
116 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0664527111.31
117 rdf:type schema:Person
118 sg:person.0733504327.25 schema:affiliation https://www.grid.ac/institutes/grid.29524.38
119 schema:familyName Lovrečić
120 schema:givenName Luca
121 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0733504327.25
122 rdf:type schema:Person
123 sg:pub.10.1007/978-3-642-20766-2 schema:sameAs https://app.dimensions.ai/details/publication/pub.1015037951
124 https://doi.org/10.1007/978-3-642-20766-2
125 rdf:type schema:CreativeWork
126 sg:pub.10.1038/nrn2214 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001613545
127 https://doi.org/10.1038/nrn2214
128 rdf:type schema:CreativeWork
129 sg:pub.10.1186/1755-8166-3-11 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033580054
130 https://doi.org/10.1186/1755-8166-3-11
131 rdf:type schema:CreativeWork
132 sg:pub.10.1186/1755-8166-3-8 schema:sameAs https://app.dimensions.ai/details/publication/pub.1029996752
133 https://doi.org/10.1186/1755-8166-3-8
134 rdf:type schema:CreativeWork
135 https://doi.org/10.1002/(sici)1096-8628(19980428)77:1<19::aid-ajmg5>3.0.co;2-g schema:sameAs https://app.dimensions.ai/details/publication/pub.1041429784
136 rdf:type schema:CreativeWork
137 https://doi.org/10.1016/j.ejmg.2012.01.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1007128786
138 rdf:type schema:CreativeWork
139 https://doi.org/10.1016/j.febslet.2006.06.043 schema:sameAs https://app.dimensions.ai/details/publication/pub.1025798508
140 rdf:type schema:CreativeWork
141 https://doi.org/10.1016/j.psychres.2015.03.022 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033147069
142 rdf:type schema:CreativeWork
143 https://doi.org/10.1016/j.tjog.2016.05.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004419955
144 rdf:type schema:CreativeWork
145 https://doi.org/10.1016/s0925-4773(02)00238-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1001278372
146 rdf:type schema:CreativeWork
147 https://doi.org/10.1126/science.1258366 schema:sameAs https://app.dimensions.ai/details/publication/pub.1000703165
148 rdf:type schema:CreativeWork
149 https://doi.org/10.1136/jmg.38.12.885 schema:sameAs https://app.dimensions.ai/details/publication/pub.1027713475
150 rdf:type schema:CreativeWork
151 https://doi.org/10.1159/000074163 schema:sameAs https://app.dimensions.ai/details/publication/pub.1035160256
152 rdf:type schema:CreativeWork
153 https://doi.org/10.1159/000079572 schema:sameAs https://app.dimensions.ai/details/publication/pub.1034588137
154 rdf:type schema:CreativeWork
155 https://doi.org/10.3892/ijmm.19.5.719 schema:sameAs https://app.dimensions.ai/details/publication/pub.1071506593
156 rdf:type schema:CreativeWork
157 https://doi.org/10.4252/wjsc.v7.i3.605 schema:sameAs https://app.dimensions.ai/details/publication/pub.1072402373
158 rdf:type schema:CreativeWork
159 https://www.grid.ac/institutes/grid.29524.38 schema:alternateName Ljubljana University Medical Centre
160 schema:name Clinical Institute of Medical Genetic, UMC, Ljubljana, Slovenia
161 Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC, Ljubljana, Slovenia
162 University Children’s Hospital, University Medical Centre Ljubljana, Unit for Special Laboratory Diagnostic, Vrazov trg 1, SI-1525, Ljubljana, Slovenia
163 rdf:type schema:Organization
164 https://www.grid.ac/institutes/grid.8954.0 schema:alternateName University of Ljubljana
165 schema:name Department of Pediatric Endocrinology, Diabetes and Metabolic Diseases, University Children’s Hospital, UMC, Ljubljana, Slovenia
166 Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia
167 rdf:type schema:Organization
 




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


...