Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases.
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| Title: | Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases. |
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| Authors: | AlAbdi, Lama1,2 (AUTHOR), Shamseldin, Hanan E.2 (AUTHOR), Khouj, Ebtissal2 (AUTHOR), Helaby, Rana2 (AUTHOR), Aljamal, Bayan2 (AUTHOR), Alqahtani, Mashael2 (AUTHOR), Almulhim, Aisha1,2 (AUTHOR), Hamid, Halima1,2 (AUTHOR), Hashem, Mais O.2 (AUTHOR), Abdulwahab, Firdous2 (AUTHOR), Abouyousef, Omar2 (AUTHOR), Jaafar, Amal2 (AUTHOR), Alshidi, Tarfa2 (AUTHOR), Al-Owain, Mohammed3,4 (AUTHOR), Alhashem, Amal4,5 (AUTHOR), Al Tala, Saeed6 (AUTHOR), Khan, Arif O.7,8 (AUTHOR), Mardawi, Elham9 (AUTHOR), Alkuraya, Hisham10 (AUTHOR), Faqeih, Eissa11 (AUTHOR) |
| Source: | Genome Medicine. 12/14/2023, Vol. 15 Issue 1, p1-16. 16p. |
| 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: 174256893 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=174256893 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13073-023-01270-8 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 16 StartPage: 1 Titles: – TitleFull: Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: AlAbdi, Lama – PersonEntity: Name: NameFull: Shamseldin, Hanan E. – PersonEntity: Name: NameFull: Khouj, Ebtissal – PersonEntity: Name: NameFull: Helaby, Rana – PersonEntity: Name: NameFull: Aljamal, Bayan – PersonEntity: Name: NameFull: Alqahtani, Mashael – PersonEntity: Name: NameFull: Almulhim, Aisha – PersonEntity: Name: NameFull: Hamid, Halima – PersonEntity: Name: NameFull: Hashem, Mais O. – PersonEntity: Name: NameFull: Abdulwahab, Firdous – PersonEntity: Name: NameFull: Abouyousef, Omar – PersonEntity: Name: NameFull: Jaafar, Amal – PersonEntity: Name: NameFull: Alshidi, Tarfa – PersonEntity: Name: NameFull: Al-Owain, Mohammed – PersonEntity: Name: NameFull: Alhashem, Amal – PersonEntity: Name: NameFull: Al Tala, Saeed – PersonEntity: Name: NameFull: Khan, Arif O. – PersonEntity: Name: NameFull: Mardawi, Elham – PersonEntity: Name: NameFull: Alkuraya, Hisham – PersonEntity: Name: NameFull: Faqeih, Eissa IsPartOfRelationships: – BibEntity: Dates: – D: 14 M: 12 Text: 12/14/2023 Type: published Y: 2023 Identifiers: – Type: issn-print Value: 1756994X Numbering: – Type: volume Value: 15 – Type: issue Value: 1 Titles: – TitleFull: Genome Medicine Type: main |
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