Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder.
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| Title: | Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder. |
|---|---|
| Authors: | Seaby, Eleanor G1,2, Godwin, Annie3, Meyer-Dilhet, Géraldine4, Clerc, Valentine5, Grand, Xavier5,6, Fletcher, Tia3, Monteiro, Laloe4, Kerkhofs, Martijn4, Carelli, Valerio7,8, Palombo, Flavia7, Seri, Marco9, Olivucci, Giulia9, Grippa, Mina9, Ciaccio, Claudia10, D'Arrigo, Stefano10, Iascone, Maria11, Bermudez, Marion12, Fischer, Jan12, Donato, Nataliya Di12, Goesswein, Sophie12 |
| Source: | Brain: A Journal of Neurology; Apr2025, Vol. 148 Issue 4, p1155-1168, 14p |
| Database: | Applied Science & Technology Source |
| FullText | Text: Availability: 0 |
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| Header | DbId: aci DbLabel: Applied Science & Technology Source An: 184408944 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=184408944 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1093/brain/awae320 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 14 StartPage: 1155 Titles: – TitleFull: Monoallelic de novo variants in DDX17 cause a neurodevelopmental disorder. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Seaby, Eleanor G – PersonEntity: Name: NameFull: Godwin, Annie – PersonEntity: Name: NameFull: Meyer-Dilhet, Géraldine – PersonEntity: Name: NameFull: Clerc, Valentine – PersonEntity: Name: NameFull: Grand, Xavier – PersonEntity: Name: NameFull: Fletcher, Tia – PersonEntity: Name: NameFull: Monteiro, Laloe – PersonEntity: Name: NameFull: Kerkhofs, Martijn – PersonEntity: Name: NameFull: Carelli, Valerio – PersonEntity: Name: NameFull: Palombo, Flavia – PersonEntity: Name: NameFull: Seri, Marco – PersonEntity: Name: NameFull: Olivucci, Giulia – PersonEntity: Name: NameFull: Grippa, Mina – PersonEntity: Name: NameFull: Ciaccio, Claudia – PersonEntity: Name: NameFull: D'Arrigo, Stefano – PersonEntity: Name: NameFull: Iascone, Maria – PersonEntity: Name: NameFull: Bermudez, Marion – PersonEntity: Name: NameFull: Fischer, Jan – PersonEntity: Name: NameFull: Donato, Nataliya Di – PersonEntity: Name: NameFull: Goesswein, Sophie IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 04 Text: Apr2025 Type: published Y: 2025 Identifiers: – Type: issn-print Value: 00068950 Numbering: – Type: volume Value: 148 – Type: issue Value: 4 Titles: – TitleFull: Brain: A Journal of Neurology Type: main |
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