Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-03

AUTHORS

Vera Uliana, Francesco Bonatti, Valentina Zanatta, Paola Mozzoni, Davide Martorana, Antonio Percesepe

ABSTRACT

Microduplications of the X chromosome are a rare cause of X-linked intellectual disability (XLID), a clinically and genetically heterogeneous spectrum of disorders. In the present study, a 950-kb Xp22.12 microduplication including the RPS6KA3 gene was detected in affected members of a family, including the proband (male), his mother and one maternal uncle. Four female carriers had major depression and one of them also had mild intellectual disability. The present and previous cases with overlapping microduplications suggest that Xp22.12 microduplications can be included in the neuropsychiatric copy number variations. More... »

PAGES

10

Journal

TITLE

Journal of Genetics

ISSUE

1

VOLUME

98

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s12041-019-1055-8

DOI

http://dx.doi.org/10.1007/s12041-019-1055-8

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1112283397

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30945684


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": "University of Parma", 
          "id": "https://www.grid.ac/institutes/grid.10383.39", 
          "name": [
            "Medical Genetics, Department of Medicine and Surgery, University of Parma, 43126, Parma, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Uliana", 
        "givenName": "Vera", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Parma", 
          "id": "https://www.grid.ac/institutes/grid.10383.39", 
          "name": [
            "Medical Genetics, Department of Medicine and Surgery, University of Parma, 43126, Parma, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bonatti", 
        "givenName": "Francesco", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "name": [
            "TOMA, Advanced Biomedical Assays S.p.A., Busto Arsizio, 21052, Busto Arsizio, Varese, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Zanatta", 
        "givenName": "Valentina", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Parma", 
          "id": "https://www.grid.ac/institutes/grid.10383.39", 
          "name": [
            "Medical Genetics, Department of Medicine and Surgery, University of Parma, 43126, Parma, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Mozzoni", 
        "givenName": "Paola", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Ospedale di Parma", 
          "id": "https://www.grid.ac/institutes/grid.411482.a", 
          "name": [
            "Medical Genetics, University Hospital of Parma, 43126, Parma, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Martorana", 
        "givenName": "Davide", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "University of Parma", 
          "id": "https://www.grid.ac/institutes/grid.10383.39", 
          "name": [
            "Medical Genetics, Department of Medicine and Surgery, University of Parma, 43126, Parma, Italy"
          ], 
          "type": "Organization"
        }, 
        "familyName": "Percesepe", 
        "givenName": "Antonio", 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "https://doi.org/10.1016/j.ymgme.2016.05.010", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1004056368"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1242/jcs.02950", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1010525655"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/jhg.2013.88", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1016088375", 
          "https://doi.org/10.1038/jhg.2013.88"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/8719", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028663455", 
          "https://doi.org/10.1038/8719"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/8719", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1028663455", 
          "https://doi.org/10.1038/8719"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-007-0424-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033839887", 
          "https://doi.org/10.1007/s00439-007-0424-1"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-007-0424-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033839887", 
          "https://doi.org/10.1007/s00439-007-0424-1"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-007-0424-1", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1033839887", 
          "https://doi.org/10.1007/s00439-007-0424-1"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1111/j.1399-0004.2006.00723.x", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1036831272"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/jhg.2015.106", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1038558551", 
          "https://doi.org/10.1038/jhg.2015.106"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.2262", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1039690822", 
          "https://doi.org/10.1038/ng.2262"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1136/jmg.36.10.775", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1040304996"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/nature12818", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043154470", 
          "https://doi.org/10.1038/nature12818"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1002/ajmg.a.32070", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1043469028"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1016/j.tig.2009.05.002", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1046608308"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1186/1471-2164-8-443", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049282767", 
          "https://doi.org/10.1186/1471-2164-8-443"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200738", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049321103", 
          "https://doi.org/10.1038/sj.ejhg.5200738"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/sj.ejhg.5200738", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1049321103", 
          "https://doi.org/10.1038/sj.ejhg.5200738"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2009.189", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052558930", 
          "https://doi.org/10.1038/ejhg.2009.189"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ejhg.2009.189", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052558930", 
          "https://doi.org/10.1038/ejhg.2009.189"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1086/512864", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1058788611"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "https://doi.org/10.1542/peds.2010-0388", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1067828362"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2019-03", 
    "datePublishedReg": "2019-03-01", 
    "description": "Microduplications of the X chromosome are a rare cause of X-linked intellectual disability (XLID), a clinically and genetically heterogeneous spectrum of disorders. In the present study, a 950-kb Xp22.12 microduplication including the RPS6KA3 gene was detected in affected members of a family, including the proband (male), his mother and one maternal uncle. Four female carriers had major depression and one of them also had mild intellectual disability. The present and previous cases with overlapping microduplications suggest that Xp22.12 microduplications can be included in the neuropsychiatric copy number variations.", 
    "genre": "research_article", 
    "id": "sg:pub.10.1007/s12041-019-1055-8", 
    "inLanguage": [
      "en"
    ], 
    "isAccessibleForFree": false, 
    "isPartOf": [
      {
        "id": "sg:journal.1077130", 
        "issn": [
          "0022-1333", 
          "0973-7731"
        ], 
        "name": "Journal of Genetics", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "98"
      }
    ], 
    "name": "Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene", 
    "pagination": "10", 
    "productId": [
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1007/s12041-019-1055-8"
        ]
      }, 
      {
        "name": "readcube_id", 
        "type": "PropertyValue", 
        "value": [
          "10d36312f97ea17f9f26167aa5d9c106df6fcac2bea0a03d0d53cd585888d92a"
        ]
      }, 
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1112283397"
        ]
      }, 
      {
        "name": "nlm_unique_id", 
        "type": "PropertyValue", 
        "value": [
          "2985113R"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "30945684"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1007/s12041-019-1055-8", 
      "https://app.dimensions.ai/details/publication/pub.1112283397"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2019-04-15T09:03", 
    "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/v90/0000000375_0000000375/records_91464_00000001.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://link.springer.com/10.1007%2Fs12041-019-1055-8"
  }
]
 

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.10.1007/s12041-019-1055-8'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1007/s12041-019-1055-8'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1007/s12041-019-1055-8'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s12041-019-1055-8'


 

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

163 TRIPLES      21 PREDICATES      46 URIs      21 LITERALS      9 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1007/s12041-019-1055-8 schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author Na725fa1ef548417598e92968150451d7
4 schema:citation sg:pub.10.1007/s00439-007-0424-1
5 sg:pub.10.1038/8719
6 sg:pub.10.1038/ejhg.2009.189
7 sg:pub.10.1038/jhg.2013.88
8 sg:pub.10.1038/jhg.2015.106
9 sg:pub.10.1038/nature12818
10 sg:pub.10.1038/ng.2262
11 sg:pub.10.1038/sj.ejhg.5200738
12 sg:pub.10.1186/1471-2164-8-443
13 https://doi.org/10.1002/ajmg.a.32070
14 https://doi.org/10.1016/j.tig.2009.05.002
15 https://doi.org/10.1016/j.ymgme.2016.05.010
16 https://doi.org/10.1086/512864
17 https://doi.org/10.1111/j.1399-0004.2006.00723.x
18 https://doi.org/10.1136/jmg.36.10.775
19 https://doi.org/10.1242/jcs.02950
20 https://doi.org/10.1542/peds.2010-0388
21 schema:datePublished 2019-03
22 schema:datePublishedReg 2019-03-01
23 schema:description Microduplications of the X chromosome are a rare cause of X-linked intellectual disability (XLID), a clinically and genetically heterogeneous spectrum of disorders. In the present study, a 950-kb Xp22.12 microduplication including the <i>RPS6KA3</i> gene was detected in affected members of a family, including the proband (male), his mother and one maternal uncle. Four female carriers had major depression and one of them also had mild intellectual disability. The present and previous cases with overlapping microduplications suggest that Xp22.12 microduplications can be included in the neuropsychiatric copy number variations.
24 schema:genre research_article
25 schema:inLanguage en
26 schema:isAccessibleForFree false
27 schema:isPartOf Nf85c45f6a1a444ccac25673c00c95470
28 Nffb70024be404192a12e25f94e570960
29 sg:journal.1077130
30 schema:name Spectrum of X-linked intellectual disabilities and psychiatric symptoms in a family harbouring a Xp22.12 microduplication encompassing the RPS6KA3 gene
31 schema:pagination 10
32 schema:productId N02faf220e58142eb9ae39a9c25752706
33 N49e195d332d84075912dd0f318444fe3
34 N73c26f44f7ce4b7a968e37548f5fd86a
35 N833b2296d6964d77aade2656c681c452
36 Nbb8cd358e7d04d92ad4c634c490898b2
37 schema:sameAs https://app.dimensions.ai/details/publication/pub.1112283397
38 https://doi.org/10.1007/s12041-019-1055-8
39 schema:sdDatePublished 2019-04-15T09:03
40 schema:sdLicense https://scigraph.springernature.com/explorer/license/
41 schema:sdPublisher Ne228f5d226ea47669d28d20d2fb92695
42 schema:url https://link.springer.com/10.1007%2Fs12041-019-1055-8
43 sgo:license sg:explorer/license/
44 sgo:sdDataset articles
45 rdf:type schema:ScholarlyArticle
46 N02faf220e58142eb9ae39a9c25752706 schema:name dimensions_id
47 schema:value pub.1112283397
48 rdf:type schema:PropertyValue
49 N49e195d332d84075912dd0f318444fe3 schema:name pubmed_id
50 schema:value 30945684
51 rdf:type schema:PropertyValue
52 N50df767c7111463487bb3b806cc5cadd schema:name TOMA, Advanced Biomedical Assays S.p.A., Busto Arsizio, 21052, Busto Arsizio, Varese, Italy
53 rdf:type schema:Organization
54 N53d804dc7dba47d08e594ab945d99cf4 schema:affiliation https://www.grid.ac/institutes/grid.10383.39
55 schema:familyName Uliana
56 schema:givenName Vera
57 rdf:type schema:Person
58 N6c5a2529f5e747009d73bee4063cc13a schema:affiliation https://www.grid.ac/institutes/grid.10383.39
59 schema:familyName Mozzoni
60 schema:givenName Paola
61 rdf:type schema:Person
62 N73c26f44f7ce4b7a968e37548f5fd86a schema:name readcube_id
63 schema:value 10d36312f97ea17f9f26167aa5d9c106df6fcac2bea0a03d0d53cd585888d92a
64 rdf:type schema:PropertyValue
65 N833b2296d6964d77aade2656c681c452 schema:name doi
66 schema:value 10.1007/s12041-019-1055-8
67 rdf:type schema:PropertyValue
68 N8c9f4638db15417c86098ddaeeb452fe schema:affiliation https://www.grid.ac/institutes/grid.10383.39
69 schema:familyName Bonatti
70 schema:givenName Francesco
71 rdf:type schema:Person
72 N90847938686b405ab1eada8c6f716f96 rdf:first N6c5a2529f5e747009d73bee4063cc13a
73 rdf:rest Nf8e6f727351d40408e2e768bc6e8af0c
74 N9b26010f6ac84e349b0fc2625ac15f64 schema:affiliation https://www.grid.ac/institutes/grid.411482.a
75 schema:familyName Martorana
76 schema:givenName Davide
77 rdf:type schema:Person
78 Na725fa1ef548417598e92968150451d7 rdf:first N53d804dc7dba47d08e594ab945d99cf4
79 rdf:rest Nd917fe96c4494f989ebd7f49ddd5b4e5
80 Nac9be98c70224fb783675fd6d57c53e5 schema:affiliation https://www.grid.ac/institutes/grid.10383.39
81 schema:familyName Percesepe
82 schema:givenName Antonio
83 rdf:type schema:Person
84 Nbb8cd358e7d04d92ad4c634c490898b2 schema:name nlm_unique_id
85 schema:value 2985113R
86 rdf:type schema:PropertyValue
87 Nd8ba0d12ebe246bda91a1484dfdd8fb0 rdf:first Nda781bbb62094d549ceef9738ba2545d
88 rdf:rest N90847938686b405ab1eada8c6f716f96
89 Nd917fe96c4494f989ebd7f49ddd5b4e5 rdf:first N8c9f4638db15417c86098ddaeeb452fe
90 rdf:rest Nd8ba0d12ebe246bda91a1484dfdd8fb0
91 Nd9d5f8efff53444491a2c4c6956206b5 rdf:first Nac9be98c70224fb783675fd6d57c53e5
92 rdf:rest rdf:nil
93 Nda781bbb62094d549ceef9738ba2545d schema:affiliation N50df767c7111463487bb3b806cc5cadd
94 schema:familyName Zanatta
95 schema:givenName Valentina
96 rdf:type schema:Person
97 Ne228f5d226ea47669d28d20d2fb92695 schema:name Springer Nature - SN SciGraph project
98 rdf:type schema:Organization
99 Nf85c45f6a1a444ccac25673c00c95470 schema:volumeNumber 98
100 rdf:type schema:PublicationVolume
101 Nf8e6f727351d40408e2e768bc6e8af0c rdf:first N9b26010f6ac84e349b0fc2625ac15f64
102 rdf:rest Nd9d5f8efff53444491a2c4c6956206b5
103 Nffb70024be404192a12e25f94e570960 schema:issueNumber 1
104 rdf:type schema:PublicationIssue
105 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
106 schema:name Biological Sciences
107 rdf:type schema:DefinedTerm
108 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
109 schema:name Genetics
110 rdf:type schema:DefinedTerm
111 sg:journal.1077130 schema:issn 0022-1333
112 0973-7731
113 schema:name Journal of Genetics
114 rdf:type schema:Periodical
115 sg:pub.10.1007/s00439-007-0424-1 schema:sameAs https://app.dimensions.ai/details/publication/pub.1033839887
116 https://doi.org/10.1007/s00439-007-0424-1
117 rdf:type schema:CreativeWork
118 sg:pub.10.1038/8719 schema:sameAs https://app.dimensions.ai/details/publication/pub.1028663455
119 https://doi.org/10.1038/8719
120 rdf:type schema:CreativeWork
121 sg:pub.10.1038/ejhg.2009.189 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052558930
122 https://doi.org/10.1038/ejhg.2009.189
123 rdf:type schema:CreativeWork
124 sg:pub.10.1038/jhg.2013.88 schema:sameAs https://app.dimensions.ai/details/publication/pub.1016088375
125 https://doi.org/10.1038/jhg.2013.88
126 rdf:type schema:CreativeWork
127 sg:pub.10.1038/jhg.2015.106 schema:sameAs https://app.dimensions.ai/details/publication/pub.1038558551
128 https://doi.org/10.1038/jhg.2015.106
129 rdf:type schema:CreativeWork
130 sg:pub.10.1038/nature12818 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043154470
131 https://doi.org/10.1038/nature12818
132 rdf:type schema:CreativeWork
133 sg:pub.10.1038/ng.2262 schema:sameAs https://app.dimensions.ai/details/publication/pub.1039690822
134 https://doi.org/10.1038/ng.2262
135 rdf:type schema:CreativeWork
136 sg:pub.10.1038/sj.ejhg.5200738 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049321103
137 https://doi.org/10.1038/sj.ejhg.5200738
138 rdf:type schema:CreativeWork
139 sg:pub.10.1186/1471-2164-8-443 schema:sameAs https://app.dimensions.ai/details/publication/pub.1049282767
140 https://doi.org/10.1186/1471-2164-8-443
141 rdf:type schema:CreativeWork
142 https://doi.org/10.1002/ajmg.a.32070 schema:sameAs https://app.dimensions.ai/details/publication/pub.1043469028
143 rdf:type schema:CreativeWork
144 https://doi.org/10.1016/j.tig.2009.05.002 schema:sameAs https://app.dimensions.ai/details/publication/pub.1046608308
145 rdf:type schema:CreativeWork
146 https://doi.org/10.1016/j.ymgme.2016.05.010 schema:sameAs https://app.dimensions.ai/details/publication/pub.1004056368
147 rdf:type schema:CreativeWork
148 https://doi.org/10.1086/512864 schema:sameAs https://app.dimensions.ai/details/publication/pub.1058788611
149 rdf:type schema:CreativeWork
150 https://doi.org/10.1111/j.1399-0004.2006.00723.x schema:sameAs https://app.dimensions.ai/details/publication/pub.1036831272
151 rdf:type schema:CreativeWork
152 https://doi.org/10.1136/jmg.36.10.775 schema:sameAs https://app.dimensions.ai/details/publication/pub.1040304996
153 rdf:type schema:CreativeWork
154 https://doi.org/10.1242/jcs.02950 schema:sameAs https://app.dimensions.ai/details/publication/pub.1010525655
155 rdf:type schema:CreativeWork
156 https://doi.org/10.1542/peds.2010-0388 schema:sameAs https://app.dimensions.ai/details/publication/pub.1067828362
157 rdf:type schema:CreativeWork
158 https://www.grid.ac/institutes/grid.10383.39 schema:alternateName University of Parma
159 schema:name Medical Genetics, Department of Medicine and Surgery, University of Parma, 43126, Parma, Italy
160 rdf:type schema:Organization
161 https://www.grid.ac/institutes/grid.411482.a schema:alternateName Ospedale di Parma
162 schema:name Medical Genetics, University Hospital of Parma, 43126, Parma, Italy
163 rdf:type schema:Organization
 




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


...