Association between phenotypes and genotype of developmental and epileptic encephalopathy in next-generation sequencing methods in infants: A scoping review.
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| Title: | Association between phenotypes and genotype of developmental and epileptic encephalopathy in next-generation sequencing methods in infants: A scoping review. |
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| Authors: | Triono A; Universitas Gadjah Mada/Dr. Sardjito Hospital, Faculty of Medicine, Public Health and Nursing, Neurology Division, Department of Child Health, Yogyakarta Indonesia., Herini ES; Universitas Gadjah Mada/Dr. Sardjito Hospital, Faculty of Medicine, Public Health and Nursing, Neurology Division, Department of Child Health, Yogyakarta Indonesia., Mooiindie KH; Universitas Gadjah Mada/Dr. Sardjito Hospital, Faculty of Medicine, Public Health and Nursing, Neurology Division, Department of Child Health, Yogyakarta Indonesia., Iskandar K; Universitas Gadjah Mada/UGM Academic Hospital, Faculty of Medicine, Public Health and Nursing, Department of Child Health, Neurology Division, Yogyakarta Indonesia., Gunadi; Universitas Gadjah Mada/Dr. Sardjito Hospital, Faculty of Medicine, Public Health and Nursing, Department of Surgery, Pediatric Surgery Division, Yogyakarta Indonesia. drgunadi@ugm.ac.id.; Genetics Working Group/Translational Research Unit, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Dr. Sardjito Hospital, Yogyakarta, Indonesia. |
| Source: | The Medical journal of Malaysia [Med J Malaysia] 2025 Jul; Vol. 80 (4), pp. 521-530. |
| Publication Type: | Journal Article; Scoping Review |
| Journal Info: | Publisher: Malaysian Medical Association Country of Publication: Malaysia NLM ID: 0361547 Publication Model: Print Cited Medium: Internet ISSN: 0300-5283 (Print) Linking ISSN: 03005283 NLM ISO Abbreviation: Med J Malaysia Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40740097 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Association between phenotypes and genotype of developmental and epileptic encephalopathy in next-generation sequencing methods in infants: A scoping review. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Triono+A%22">Triono A</searchLink>; Universitas Gadjah Mada/Dr. Sardjito Hospital, Faculty of Medicine, Public Health and Nursing, Neurology Division, Department of Child Health, Yogyakarta Indonesia.<br /><searchLink fieldCode="AU" term="%22Herini+ES%22">Herini ES</searchLink>; Universitas Gadjah Mada/Dr. Sardjito Hospital, Faculty of Medicine, Public Health and Nursing, Neurology Division, Department of Child Health, Yogyakarta Indonesia.<br /><searchLink fieldCode="AU" term="%22Mooiindie+KH%22">Mooiindie KH</searchLink>; Universitas Gadjah Mada/Dr. Sardjito Hospital, Faculty of Medicine, Public Health and Nursing, Neurology Division, Department of Child Health, Yogyakarta Indonesia.<br /><searchLink fieldCode="AU" term="%22Iskandar+K%22">Iskandar K</searchLink>; Universitas Gadjah Mada/UGM Academic Hospital, Faculty of Medicine, Public Health and Nursing, Department of Child Health, Neurology Division, Yogyakarta Indonesia.<br /><searchLink fieldCode="AU" term="%22Gunadi%22">Gunadi</searchLink>; Universitas Gadjah Mada/Dr. Sardjito Hospital, Faculty of Medicine, Public Health and Nursing, Department of Surgery, Pediatric Surgery Division, Yogyakarta Indonesia. drgunadi@ugm.ac.id.; Genetics Working Group/Translational Research Unit, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada, Dr. Sardjito Hospital, Yogyakarta, Indonesia. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%220361547%22">The Medical journal of Malaysia</searchLink> [Med J Malaysia] 2025 Jul; Vol. 80 (4), pp. 521-530. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Scoping Review – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Malaysian+Medical+Association%22">Malaysian Medical Association </searchLink><i>Country of Publication: </i>Malaysia <i>NLM ID: </i>0361547 <i>Publication Model: </i>Print <i>Cited Medium: </i>Internet <i>ISSN: </i>0300-5283 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203005283%22">03005283 </searchLink><i>NLM ISO Abbreviation: </i>Med J Malaysia <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40740097 |
| RecordInfo | BibRecord: BibEntity: Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 521 Titles: – TitleFull: Association between phenotypes and genotype of developmental and epileptic encephalopathy in next-generation sequencing methods in infants: A scoping review. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Triono A – PersonEntity: Name: NameFull: Herini ES – PersonEntity: Name: NameFull: Mooiindie KH – PersonEntity: Name: NameFull: Iskandar K – PersonEntity: Name: NameFull: Gunadi IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 07 Text: 2025 Jul Type: published Y: 2025 Identifiers: – Type: issn-print Value: 0300-5283 Numbering: – Type: volume Value: 80 – Type: issue Value: 4 Titles: – TitleFull: The Medical journal of Malaysia Type: main |
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