7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy.
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| Title: | 7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy. |
|---|---|
| Authors: | Skvortsova, Liliya1 (AUTHOR), Perfilyeva, Anastassiya1 (AUTHOR), Bespalova, Kira1,2 (AUTHOR) Kira.b.bespalova@gmail.com, Kuzovleva, Yelena1 (AUTHOR), Kabysheva, Nailya1 (AUTHOR), Khamdiyeva, Ozada1,2 (AUTHOR) |
| Source: | Orphanet Journal of Rare Diseases. 8/16/2024, Vol. 19 Issue 1, p1-9. 9p. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 179069052 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=asn&AN=179069052 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-024-03321-8 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 9 StartPage: 1 Titles: – TitleFull: 7p22.3 microdeletion: a case study of a patient with congenital heart defect, neurodevelopmental delay and epilepsy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Skvortsova, Liliya – PersonEntity: Name: NameFull: Perfilyeva, Anastassiya – PersonEntity: Name: NameFull: Bespalova, Kira – PersonEntity: Name: NameFull: Kuzovleva, Yelena – PersonEntity: Name: NameFull: Kabysheva, Nailya – PersonEntity: Name: NameFull: Khamdiyeva, Ozada IsPartOfRelationships: – BibEntity: Dates: – D: 16 M: 08 Text: 8/16/2024 Type: published Y: 2024 Identifiers: – Type: issn-print Value: 17501172 Numbering: – Type: volume Value: 19 – Type: issue Value: 1 Titles: – TitleFull: Orphanet Journal of Rare Diseases Type: main |
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