A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2018-03-08

AUTHORS

Tomohiro Sakaguchi, Tamara Žigman, Danijela Petković Ramadža, Lana Omerza, Silvija Pušeljić, Zrinka Ereš Hrvaćanin, Noriko Miyake, Naomichi Matsumoto, Ivo Barić

ABSTRACT

Biallelic mutations in the post-GPI attachment to proteins 3 (PGAP3) gene cause hyperphosphatasia with mental retardation syndrome 4 (HPMRS4), which is characterized by elevated serum alkaline phosphatase, severe psychomotor developmental delay, seizures, and facial dysmorphism. To date, 15 PGAP3 mutations have been reported in humans. Here we report a novel homozygous PGAP3 mutation (c.314C>A, p.Pro105Gln) in a Croatian patient and fully describe the clinical features. More... »

PAGES

18005

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/hgv.2018.5

DOI

http://dx.doi.org/10.1038/hgv.2018.5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1101370287

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/29531774


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/2008/06", 
        "inDefinedTermSet": "http://purl.org/au-research/vocabulary/anzsrc-for/2008/", 
        "name": "Biological Sciences", 
        "type": "DefinedTerm"
      }, 
      {
        "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"
      }
    ], 
    "author": [
      {
        "affiliation": {
          "alternateName": "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan.", 
          "id": "http://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Sakaguchi", 
        "givenName": "Tomohiro", 
        "id": "sg:person.011102632760.46", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011102632760.46"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.", 
          "id": "http://www.grid.ac/institutes/grid.412688.1", 
          "name": [
            "Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia."
          ], 
          "type": "Organization"
        }, 
        "familyName": "\u017digman", 
        "givenName": "Tamara", 
        "id": "sg:person.01014672040.05", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01014672040.05"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "School of Medicine, University of Zagreb, Zagreb, Croatia.", 
          "id": "http://www.grid.ac/institutes/grid.4808.4", 
          "name": [
            "Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.", 
            "School of Medicine, University of Zagreb, Zagreb, Croatia."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Petkovi\u0107 Ramad\u017ea", 
        "givenName": "Danijela", 
        "id": "sg:person.0622560740.52", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0622560740.52"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "School of Medicine, University of Zagreb, Zagreb, Croatia.", 
          "id": "http://www.grid.ac/institutes/grid.4808.4", 
          "name": [
            "Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.", 
            "School of Medicine, University of Zagreb, Zagreb, Croatia."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Omerza", 
        "givenName": "Lana", 
        "id": "sg:person.07662602604.41", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07662602604.41"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "School of Medicine, Osijek University, Osijek, Croatia.", 
          "id": "http://www.grid.ac/institutes/grid.412680.9", 
          "name": [
            "Department of Pediatrics, University Hospital Center Osijek, Osijek, Croatia.", 
            "School of Medicine, Osijek University, Osijek, Croatia."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Pu\u0161elji\u0107", 
        "givenName": "Silvija", 
        "id": "sg:person.01317526152.58", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01317526152.58"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Pediatrics, General Hospital \"Dr. Josip Ben\u010devi\u0107\", Slavonski Brod, Croatia.", 
          "id": "http://www.grid.ac/institutes/None", 
          "name": [
            "Department of Pediatrics, General Hospital \"Dr. Josip Ben\u010devi\u0107\", Slavonski Brod, Croatia."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Ere\u0161 Hrva\u0107anin", 
        "givenName": "Zrinka", 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan.", 
          "id": "http://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Miyake", 
        "givenName": "Noriko", 
        "id": "sg:person.01027727764.75", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027727764.75"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan.", 
          "id": "http://www.grid.ac/institutes/grid.268441.d", 
          "name": [
            "Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Matsumoto", 
        "givenName": "Naomichi", 
        "id": "sg:person.01020376771.12", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01020376771.12"
        ], 
        "type": "Person"
      }, 
      {
        "affiliation": {
          "alternateName": "School of Medicine, University of Zagreb, Zagreb, Croatia.", 
          "id": "http://www.grid.ac/institutes/grid.4808.4", 
          "name": [
            "Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.", 
            "School of Medicine, University of Zagreb, Zagreb, Croatia."
          ], 
          "type": "Organization"
        }, 
        "familyName": "Bari\u0107", 
        "givenName": "Ivo", 
        "id": "sg:person.0667450102.63", 
        "sameAs": [
          "https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0667450102.63"
        ], 
        "type": "Person"
      }
    ], 
    "citation": [
      {
        "id": "sg:pub.10.1038/ejhg.2017.32", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1084127997", 
          "https://doi.org/10.1038/ejhg.2017.32"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s00439-015-1575-0", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1030373920", 
          "https://doi.org/10.1007/s00439-015-1575-0"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/gim.2016.37", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1052480456", 
          "https://doi.org/10.1038/gim.2016.37"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1007/s11011-017-0109-y", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1091600125", 
          "https://doi.org/10.1007/s11011-017-0109-y"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/ng.653", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1020380181", 
          "https://doi.org/10.1038/ng.653"
        ], 
        "type": "CreativeWork"
      }, 
      {
        "id": "sg:pub.10.1038/jhg.2016.9", 
        "sameAs": [
          "https://app.dimensions.ai/details/publication/pub.1003493477", 
          "https://doi.org/10.1038/jhg.2016.9"
        ], 
        "type": "CreativeWork"
      }
    ], 
    "datePublished": "2018-03-08", 
    "datePublishedReg": "2018-03-08", 
    "description": "Biallelic mutations in the post-GPI attachment to proteins 3 (PGAP3) gene cause hyperphosphatasia with mental retardation syndrome 4 (HPMRS4), which is characterized by elevated serum alkaline phosphatase, severe psychomotor developmental delay, seizures, and facial dysmorphism. To date, 15 PGAP3 mutations have been reported in humans. Here we report a novel homozygous PGAP3 mutation (c.314C>A, p.Pro105Gln) in a Croatian patient and fully describe the clinical features.", 
    "genre": "article", 
    "id": "sg:pub.10.1038/hgv.2018.5", 
    "inLanguage": "en", 
    "isAccessibleForFree": true, 
    "isFundedItemOf": [
      {
        "id": "sg:grant.5907324", 
        "type": "MonetaryGrant"
      }, 
      {
        "id": "sg:grant.6819771", 
        "type": "MonetaryGrant"
      }
    ], 
    "isPartOf": [
      {
        "id": "sg:journal.1320608", 
        "issn": [
          "2054-345X"
        ], 
        "name": "Human Genome Variation", 
        "publisher": "Springer Nature", 
        "type": "Periodical"
      }, 
      {
        "issueNumber": "1", 
        "type": "PublicationIssue"
      }, 
      {
        "type": "PublicationVolume", 
        "volumeNumber": "5"
      }
    ], 
    "keywords": [
      "elevated serum alkaline phosphatase", 
      "severe psychomotor developmental delay", 
      "serum alkaline phosphatase", 
      "psychomotor developmental delay", 
      "clinical features", 
      "Croatian patients", 
      "developmental delay", 
      "Croatian boy", 
      "biallelic mutations", 
      "facial dysmorphism", 
      "alkaline phosphatase", 
      "mutations", 
      "patients", 
      "seizures", 
      "callosum", 
      "brachytelephalangy", 
      "hyperphosphatasia", 
      "dysmorphism", 
      "boys", 
      "humans", 
      "phosphatase", 
      "genes", 
      "date", 
      "delay", 
      "features", 
      "attachment", 
      "GPI attachment", 
      "mental retardation syndrome 4", 
      "retardation syndrome 4", 
      "syndrome 4", 
      "novel PGAP3 mutation", 
      "PGAP3 mutation"
    ], 
    "name": "A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum", 
    "pagination": "18005", 
    "productId": [
      {
        "name": "dimensions_id", 
        "type": "PropertyValue", 
        "value": [
          "pub.1101370287"
        ]
      }, 
      {
        "name": "doi", 
        "type": "PropertyValue", 
        "value": [
          "10.1038/hgv.2018.5"
        ]
      }, 
      {
        "name": "pubmed_id", 
        "type": "PropertyValue", 
        "value": [
          "29531774"
        ]
      }
    ], 
    "sameAs": [
      "https://doi.org/10.1038/hgv.2018.5", 
      "https://app.dimensions.ai/details/publication/pub.1101370287"
    ], 
    "sdDataset": "articles", 
    "sdDatePublished": "2021-12-01T19:42", 
    "sdLicense": "https://scigraph.springernature.com/explorer/license/", 
    "sdPublisher": {
      "name": "Springer Nature - SN SciGraph project", 
      "type": "Organization"
    }, 
    "sdSource": "s3://com-springernature-scigraph/baseset/20211201/entities/gbq_results/article/article_766.jsonl", 
    "type": "ScholarlyArticle", 
    "url": "https://doi.org/10.1038/hgv.2018.5"
  }
]
 

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.10.1038/hgv.2018.5'

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

curl -H 'Accept: application/n-triples' 'https://scigraph.springernature.com/pub.10.1038/hgv.2018.5'

Turtle is a human-readable linked data format.

curl -H 'Accept: text/turtle' 'https://scigraph.springernature.com/pub.10.1038/hgv.2018.5'

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

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1038/hgv.2018.5'


 

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

190 TRIPLES      22 PREDICATES      64 URIs      50 LITERALS      7 BLANK NODES

Subject Predicate Object
1 sg:pub.10.1038/hgv.2018.5 schema:about anzsrc-for:06
2 anzsrc-for:0604
3 schema:author N888f0878cbb740aeaaab10c9fb761330
4 schema:citation sg:pub.10.1007/s00439-015-1575-0
5 sg:pub.10.1007/s11011-017-0109-y
6 sg:pub.10.1038/ejhg.2017.32
7 sg:pub.10.1038/gim.2016.37
8 sg:pub.10.1038/jhg.2016.9
9 sg:pub.10.1038/ng.653
10 schema:datePublished 2018-03-08
11 schema:datePublishedReg 2018-03-08
12 schema:description Biallelic mutations in the post-GPI attachment to proteins 3 (<i>PGAP3</i>) gene cause hyperphosphatasia with mental retardation syndrome 4 (HPMRS4), which is characterized by elevated serum alkaline phosphatase, severe psychomotor developmental delay, seizures, and facial dysmorphism. To date, 15 <i>PGAP3</i> mutations have been reported in humans. Here we report a novel homozygous <i>PGAP3</i> mutation (c.314C&gt;A, p.Pro105Gln) in a Croatian patient and fully describe the clinical features.
13 schema:genre article
14 schema:inLanguage en
15 schema:isAccessibleForFree true
16 schema:isPartOf Nca76c06459074359b3b6dae7407495bd
17 Nd6cd9e2b1c08439ebc544bcd2b00d45d
18 sg:journal.1320608
19 schema:keywords Croatian boy
20 Croatian patients
21 GPI attachment
22 PGAP3 mutation
23 alkaline phosphatase
24 attachment
25 biallelic mutations
26 boys
27 brachytelephalangy
28 callosum
29 clinical features
30 date
31 delay
32 developmental delay
33 dysmorphism
34 elevated serum alkaline phosphatase
35 facial dysmorphism
36 features
37 genes
38 humans
39 hyperphosphatasia
40 mental retardation syndrome 4
41 mutations
42 novel PGAP3 mutation
43 patients
44 phosphatase
45 psychomotor developmental delay
46 retardation syndrome 4
47 seizures
48 serum alkaline phosphatase
49 severe psychomotor developmental delay
50 syndrome 4
51 schema:name A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum
52 schema:pagination 18005
53 schema:productId N2ebd9c7286c9446aa6a39c7a4556b5b9
54 Nbfc0bdf1255644bc9ae718f0b304ded6
55 Nf43068487020437b9261b73e4638925a
56 schema:sameAs https://app.dimensions.ai/details/publication/pub.1101370287
57 https://doi.org/10.1038/hgv.2018.5
58 schema:sdDatePublished 2021-12-01T19:42
59 schema:sdLicense https://scigraph.springernature.com/explorer/license/
60 schema:sdPublisher N5c673d0c1e444e189fb2fa219b32a6a1
61 schema:url https://doi.org/10.1038/hgv.2018.5
62 sgo:license sg:explorer/license/
63 sgo:sdDataset articles
64 rdf:type schema:ScholarlyArticle
65 N2668341f523b40ae87a5cb9dff8889b4 rdf:first sg:person.01014672040.05
66 rdf:rest Nb192ca5e522d4241be5ad11405398054
67 N2ebd9c7286c9446aa6a39c7a4556b5b9 schema:name dimensions_id
68 schema:value pub.1101370287
69 rdf:type schema:PropertyValue
70 N45a43353304644279c2e0e5497e41288 rdf:first sg:person.07662602604.41
71 rdf:rest Na0ee1072a871430eb56869a219fb6e72
72 N5c673d0c1e444e189fb2fa219b32a6a1 schema:name Springer Nature - SN SciGraph project
73 rdf:type schema:Organization
74 N6fccfc8a1183480a86c8dcd9b6d078ea rdf:first sg:person.01020376771.12
75 rdf:rest Nda359e8a715e44649c5eebef19397bd8
76 N888f0878cbb740aeaaab10c9fb761330 rdf:first sg:person.011102632760.46
77 rdf:rest N2668341f523b40ae87a5cb9dff8889b4
78 N8cd4fa37b716451ba1ca2900e8732011 rdf:first sg:person.01027727764.75
79 rdf:rest N6fccfc8a1183480a86c8dcd9b6d078ea
80 Na0ee1072a871430eb56869a219fb6e72 rdf:first sg:person.01317526152.58
81 rdf:rest Nf1ba906230e648f69d6aced6fa35007a
82 Nb192ca5e522d4241be5ad11405398054 rdf:first sg:person.0622560740.52
83 rdf:rest N45a43353304644279c2e0e5497e41288
84 Nbfc0bdf1255644bc9ae718f0b304ded6 schema:name pubmed_id
85 schema:value 29531774
86 rdf:type schema:PropertyValue
87 Nca76c06459074359b3b6dae7407495bd schema:issueNumber 1
88 rdf:type schema:PublicationIssue
89 Nd6cd9e2b1c08439ebc544bcd2b00d45d schema:volumeNumber 5
90 rdf:type schema:PublicationVolume
91 Nda359e8a715e44649c5eebef19397bd8 rdf:first sg:person.0667450102.63
92 rdf:rest rdf:nil
93 Ne7c99c619fd940b686f802b9da71360f schema:affiliation grid-institutes:None
94 schema:familyName Ereš Hrvaćanin
95 schema:givenName Zrinka
96 rdf:type schema:Person
97 Nf1ba906230e648f69d6aced6fa35007a rdf:first Ne7c99c619fd940b686f802b9da71360f
98 rdf:rest N8cd4fa37b716451ba1ca2900e8732011
99 Nf43068487020437b9261b73e4638925a schema:name doi
100 schema:value 10.1038/hgv.2018.5
101 rdf:type schema:PropertyValue
102 anzsrc-for:06 schema:inDefinedTermSet anzsrc-for:
103 schema:name Biological Sciences
104 rdf:type schema:DefinedTerm
105 anzsrc-for:0604 schema:inDefinedTermSet anzsrc-for:
106 schema:name Genetics
107 rdf:type schema:DefinedTerm
108 sg:grant.5907324 http://pending.schema.org/fundedItem sg:pub.10.1038/hgv.2018.5
109 rdf:type schema:MonetaryGrant
110 sg:grant.6819771 http://pending.schema.org/fundedItem sg:pub.10.1038/hgv.2018.5
111 rdf:type schema:MonetaryGrant
112 sg:journal.1320608 schema:issn 2054-345X
113 schema:name Human Genome Variation
114 schema:publisher Springer Nature
115 rdf:type schema:Periodical
116 sg:person.01014672040.05 schema:affiliation grid-institutes:grid.412688.1
117 schema:familyName Žigman
118 schema:givenName Tamara
119 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01014672040.05
120 rdf:type schema:Person
121 sg:person.01020376771.12 schema:affiliation grid-institutes:grid.268441.d
122 schema:familyName Matsumoto
123 schema:givenName Naomichi
124 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01020376771.12
125 rdf:type schema:Person
126 sg:person.01027727764.75 schema:affiliation grid-institutes:grid.268441.d
127 schema:familyName Miyake
128 schema:givenName Noriko
129 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01027727764.75
130 rdf:type schema:Person
131 sg:person.011102632760.46 schema:affiliation grid-institutes:grid.268441.d
132 schema:familyName Sakaguchi
133 schema:givenName Tomohiro
134 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.011102632760.46
135 rdf:type schema:Person
136 sg:person.01317526152.58 schema:affiliation grid-institutes:grid.412680.9
137 schema:familyName Pušeljić
138 schema:givenName Silvija
139 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.01317526152.58
140 rdf:type schema:Person
141 sg:person.0622560740.52 schema:affiliation grid-institutes:grid.4808.4
142 schema:familyName Petković Ramadža
143 schema:givenName Danijela
144 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0622560740.52
145 rdf:type schema:Person
146 sg:person.0667450102.63 schema:affiliation grid-institutes:grid.4808.4
147 schema:familyName Barić
148 schema:givenName Ivo
149 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.0667450102.63
150 rdf:type schema:Person
151 sg:person.07662602604.41 schema:affiliation grid-institutes:grid.4808.4
152 schema:familyName Omerza
153 schema:givenName Lana
154 schema:sameAs https://app.dimensions.ai/discover/publication?and_facet_researcher=ur.07662602604.41
155 rdf:type schema:Person
156 sg:pub.10.1007/s00439-015-1575-0 schema:sameAs https://app.dimensions.ai/details/publication/pub.1030373920
157 https://doi.org/10.1007/s00439-015-1575-0
158 rdf:type schema:CreativeWork
159 sg:pub.10.1007/s11011-017-0109-y schema:sameAs https://app.dimensions.ai/details/publication/pub.1091600125
160 https://doi.org/10.1007/s11011-017-0109-y
161 rdf:type schema:CreativeWork
162 sg:pub.10.1038/ejhg.2017.32 schema:sameAs https://app.dimensions.ai/details/publication/pub.1084127997
163 https://doi.org/10.1038/ejhg.2017.32
164 rdf:type schema:CreativeWork
165 sg:pub.10.1038/gim.2016.37 schema:sameAs https://app.dimensions.ai/details/publication/pub.1052480456
166 https://doi.org/10.1038/gim.2016.37
167 rdf:type schema:CreativeWork
168 sg:pub.10.1038/jhg.2016.9 schema:sameAs https://app.dimensions.ai/details/publication/pub.1003493477
169 https://doi.org/10.1038/jhg.2016.9
170 rdf:type schema:CreativeWork
171 sg:pub.10.1038/ng.653 schema:sameAs https://app.dimensions.ai/details/publication/pub.1020380181
172 https://doi.org/10.1038/ng.653
173 rdf:type schema:CreativeWork
174 grid-institutes:None schema:alternateName Department of Pediatrics, General Hospital "Dr. Josip Benčević", Slavonski Brod, Croatia.
175 schema:name Department of Pediatrics, General Hospital "Dr. Josip Benčević", Slavonski Brod, Croatia.
176 rdf:type schema:Organization
177 grid-institutes:grid.268441.d schema:alternateName Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan.
178 schema:name Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan.
179 rdf:type schema:Organization
180 grid-institutes:grid.412680.9 schema:alternateName School of Medicine, Osijek University, Osijek, Croatia.
181 schema:name Department of Pediatrics, University Hospital Center Osijek, Osijek, Croatia.
182 School of Medicine, Osijek University, Osijek, Croatia.
183 rdf:type schema:Organization
184 grid-institutes:grid.412688.1 schema:alternateName Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
185 schema:name Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
186 rdf:type schema:Organization
187 grid-institutes:grid.4808.4 schema:alternateName School of Medicine, University of Zagreb, Zagreb, Croatia.
188 schema:name Department of Pediatrics, University Hospital Centre Zagreb, Zagreb, Croatia.
189 School of Medicine, University of Zagreb, Zagreb, Croatia.
190 rdf:type schema:Organization
 




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


...