Dergi makalesi Açık Erişim
Hiz, Ayse Semra; Oktay, Yavuz; Topf, Ana; Szabo, Nora; Serdal, Gungor; Yaramis, Ahmet; Sonmezler, Ece; Matalonga, Leslie; Yis, Uluc; Schon, Katherine; Paramonov, Ida; Kalafatcilar, Ipek Polat; Gao, Fei; Rieger, Aliz; Arslan, Nur; Yilmaz, Elmasnur; Ekinci, Burcu; Edem, Pinar Pulat; Aslan, Mahmut; Ozgor, Bilge
{
"conceptdoi": "10.48623/aperta.271725",
"conceptrecid": "271725",
"created": "2024-06-07T16:46:54.164240+00:00",
"doi": "10.48623/aperta.271726",
"files": [
{
"bucket": "0eb4a725-d47e-4154-a8ae-66fb2ef66677",
"checksum": "md5:7fc8312eac75f56f9c929d77d105f256",
"key": "bib-52a47f9c-ac52-481b-b490-9081e2ae51b8.txt",
"links": {
"self": "https://aperta.ulakbim.gov.tr/api/files/0eb4a725-d47e-4154-a8ae-66fb2ef66677/bib-52a47f9c-ac52-481b-b490-9081e2ae51b8.txt"
},
"size": 401,
"type": "txt"
}
],
"id": 271726,
"links": {
"badge": "https://aperta.ulakbim.gov.tr/badge/doi/10.48623/aperta.271726.svg",
"bucket": "https://aperta.ulakbim.gov.tr/api/files/0eb4a725-d47e-4154-a8ae-66fb2ef66677",
"conceptbadge": "https://aperta.ulakbim.gov.tr/badge/doi/10.48623/aperta.271725.svg",
"conceptdoi": "https://doi.org/10.48623/aperta.271725",
"doi": "https://doi.org/10.48623/aperta.271726",
"html": "https://aperta.ulakbim.gov.tr/record/271726",
"latest": "https://aperta.ulakbim.gov.tr/api/records/271726",
"latest_html": "https://aperta.ulakbim.gov.tr/record/271726"
},
"metadata": {
"access_right": "open",
"access_right_category": "success",
"communities": [
{
"id": "tubitak-destekli-proje-yayinlari"
}
],
"creators": [
{
"name": "Hiz, Ayse Semra"
},
{
"name": "Oktay, Yavuz"
},
{
"affiliation": "Newcastle Univ, Inst Translat & Clin Res, John Walton Muscular Dystrophy Res Ctr, Newcastle Upon Tyne, Tyne & Wear, England",
"name": "Topf, Ana"
},
{
"affiliation": "New St Johns Hosp & Northern Buda United Hosp, Epilepsy Neurol Polyclin Buda Childrens Hosp, Budapest, Hungary",
"name": "Szabo, Nora"
},
{
"affiliation": "Inonu Univ, Dept Paediat Neurol, Turgut Ozal Res Ctr, Fac Med, Malatya, Turkiye",
"name": "Serdal, Gungor"
},
{
"affiliation": "Pediat Neurol Clin, Diyarbakir, Turkiye",
"name": "Yaramis, Ahmet"
},
{
"affiliation": "Dokuz Eylul Univ, Izmir Int Biomed & Genome Inst, Izmir, Turkiye",
"name": "Sonmezler, Ece"
},
{
"affiliation": "Barcelona Inst Sci & Technol, Ctr Genom Regulat, CNAG CRG, Barcelona, Spain",
"name": "Matalonga, Leslie"
},
{
"affiliation": "Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkiye",
"name": "Yis, Uluc"
},
{
"name": "Schon, Katherine"
},
{
"affiliation": "Barcelona Inst Sci & Technol, Ctr Genom Regulat, CNAG CRG, Barcelona, Spain",
"name": "Paramonov, Ida"
},
{
"name": "Kalafatcilar, Ipek Polat"
},
{
"name": "Gao, Fei"
},
{
"affiliation": "Rehabil Ctr Physically Handicapped, Budapest, Hungary",
"name": "Rieger, Aliz"
},
{
"name": "Arslan, Nur"
},
{
"affiliation": "Dokuz Eylul Univ, Izmir Int Biomed & Genome Inst, Izmir, Turkiye",
"name": "Yilmaz, Elmasnur"
},
{
"affiliation": "Dokuz Eylul Univ, Izmir Int Biomed & Genome Inst, Izmir, Turkiye",
"name": "Ekinci, Burcu"
},
{
"affiliation": "Dokuz Eylul Univ, Sch Med, Dept Paediat Neurol, Izmir, Turkiye",
"name": "Edem, Pinar Pulat"
},
{
"affiliation": "Inonu Univ, Dept Paediat Neurol, Turgut Ozal Res Ctr, Fac Med, Malatya, Turkiye",
"name": "Aslan, Mahmut"
},
{
"affiliation": "Inonu Univ, Dept Paediat Neurol, Turgut Ozal Res Ctr, Fac Med, Malatya, Turkiye",
"name": "Ozgor, Bilge"
}
],
"description": "\u00d6z bulunamad\u0131.",
"doi": "10.48623/aperta.271726",
"has_grant": false,
"journal": {
"pages": "2",
"title": "EUROPEAN JOURNAL OF HUMAN GENETICS",
"volume": "31"
},
"license": {
"id": "cc-by"
},
"publication_date": "2023-01-01",
"related_identifiers": [
{
"identifier": "10.48623/aperta.271725",
"relation": "isVersionOf",
"scheme": "doi"
}
],
"relations": {
"version": [
{
"count": 1,
"index": 0,
"is_last": true,
"last_child": {
"pid_type": "recid",
"pid_value": "271726"
},
"parent": {
"pid_type": "recid",
"pid_value": "271725"
}
}
]
},
"resource_type": {
"subtype": "article",
"title": "Dergi makalesi",
"type": "publication"
},
"science_branches": [
"Di\u011fer"
],
"title": "High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases"
},
"owners": [
1
],
"revision": 1,
"stats": {
"downloads": 2.0,
"unique_downloads": 2.0,
"unique_views": 33.0,
"version_downloads": 2.0,
"version_unique_downloads": 2.0,
"version_unique_views": 33.0,
"version_views": 35.0,
"version_volume": 802.0,
"views": 35.0,
"volume": 802.0
},
"updated": "2024-06-07T16:46:54.198059+00:00"
}
| Tüm sürümler | Bu sürüm | |
|---|---|---|
| Görüntülenme | 35 | 35 |
| İndirme | 2 | 2 |
| Veri hacmi | 802 Bytes | 802 Bytes |
| Tekil görüntülenme | 33 | 33 |
| Tekil indirme | 2 | 2 |