Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey.
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| Title: | Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey. |
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| Authors: | Cope, Heidi1 (AUTHOR), Barseghyan, Hayk2,3,4 (AUTHOR), Bhattacharya, Surajit2 (AUTHOR), Fu, Yulong2 (AUTHOR), Hoppman, Nicole5 (AUTHOR), Marcou, Cherisse5 (AUTHOR), Walley, Nicole1 (AUTHOR), Rehder, Catherine6 (AUTHOR), Deak, Kristen6 (AUTHOR), Alkelai, Anna7 (AUTHOR), Vilain, Eric2,3 (AUTHOR), Shashi, Vandana1 (AUTHOR) vandana.shashi@duke.edu, Acosta, Maria T (AUTHOR), Adam, Margaret (AUTHOR), Adams, David R (AUTHOR), Agrawal, Pankaj B (AUTHOR), Alejandro, Mercedes E (AUTHOR), Alvey, Justin (AUTHOR), Amendola, Laura (AUTHOR), Andrews, Ashley (AUTHOR) |
| Source: | Molecular Genetics & Genomic Medicine. Jul2021, Vol. 9 Issue 7, p1-10. 10p. |
| Database: | Academic Search Ultimate |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 151957872 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=151957872 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/mgg3.1665 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 10 StartPage: 1 Titles: – TitleFull: Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Cope, Heidi – PersonEntity: Name: NameFull: Barseghyan, Hayk – PersonEntity: Name: NameFull: Bhattacharya, Surajit – PersonEntity: Name: NameFull: Fu, Yulong – PersonEntity: Name: NameFull: Hoppman, Nicole – PersonEntity: Name: NameFull: Marcou, Cherisse – PersonEntity: Name: NameFull: Walley, Nicole – PersonEntity: Name: NameFull: Rehder, Catherine – PersonEntity: Name: NameFull: Deak, Kristen – PersonEntity: Name: NameFull: Alkelai, Anna – PersonEntity: Name: NameFull: Vilain, Eric – PersonEntity: Name: NameFull: Shashi, Vandana – PersonEntity: Name: NameFull: Acosta, Maria T – PersonEntity: Name: NameFull: Adam, Margaret – PersonEntity: Name: NameFull: Adams, David R – PersonEntity: Name: NameFull: Agrawal, Pankaj B – PersonEntity: Name: NameFull: Alejandro, Mercedes E – PersonEntity: Name: NameFull: Alvey, Justin – PersonEntity: Name: NameFull: Amendola, Laura – PersonEntity: Name: NameFull: Andrews, Ashley IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 07 Text: Jul2021 Type: published Y: 2021 Identifiers: – Type: issn-print Value: 23249269 Numbering: – Type: volume Value: 9 – Type: issue Value: 7 Titles: – TitleFull: Molecular Genetics & Genomic Medicine Type: main |
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