NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
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| Title: | NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases. |
|---|---|
| Authors: | Perea-Romero, I.1,2 (AUTHOR), Blanco-Kelly, F.1,2 (AUTHOR), Sanchez-Navarro, I.1 (AUTHOR), Lorda-Sanchez, I.1,2 (AUTHOR), Tahsin-Swafiri, S.1,2 (AUTHOR), Avila-Fernandez, A.1,2 (AUTHOR), Martin-Merida, I.1,2 (AUTHOR), Trujillo-Tiebas, M. J.1,2 (AUTHOR), Lopez-Rodriguez, R.1,2 (AUTHOR), Rodriguez de Alba, M.1 (AUTHOR), Iancu, I. F.1,2 (AUTHOR), Romero, R.1,2 (AUTHOR), Quinodoz, M.3,4,5 (AUTHOR), Hakonarson, H.6,7,8 (AUTHOR), Garcia-Sandova, Blanca2,9 (AUTHOR), Minguez, P.1,2 (AUTHOR), Corton, M.1,2 (AUTHOR), Rivolta, C.3,4,5 (AUTHOR), Ayuso, C.1,2 (AUTHOR) cayuso@fjd.es |
| Source: | Human Genetics. Dec2021, Vol. 140 Issue 12, p1665-1678. 14p. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 153293281 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Perea-Romero%2C+I%2E%22">Perea-Romero, I.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Blanco-Kelly%2C+F%2E%22">Blanco-Kelly, F.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sanchez-Navarro%2C+I%2E%22">Sanchez-Navarro, I.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lorda-Sanchez%2C+I%2E%22">Lorda-Sanchez, I.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Tahsin-Swafiri%2C+S%2E%22">Tahsin-Swafiri, S.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Avila-Fernandez%2C+A%2E%22">Avila-Fernandez, A.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Martin-Merida%2C+I%2E%22">Martin-Merida, I.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Trujillo-Tiebas%2C+M%2E+J%2E%22">Trujillo-Tiebas, M. J.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Lopez-Rodriguez%2C+R%2E%22">Lopez-Rodriguez, R.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rodriguez+de+Alba%2C+M%2E%22">Rodriguez de Alba, M.</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Iancu%2C+I%2E+F%2E%22">Iancu, I. F.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Romero%2C+R%2E%22">Romero, R.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Quinodoz%2C+M%2E%22">Quinodoz, M.</searchLink><relatesTo>3,4,5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Hakonarson%2C+H%2E%22">Hakonarson, H.</searchLink><relatesTo>6,7,8</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Garcia-Sandova%2C+Blanca%22">Garcia-Sandova, Blanca</searchLink><relatesTo>2,9</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Minguez%2C+P%2E%22">Minguez, P.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Corton%2C+M%2E%22">Corton, M.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Rivolta%2C+C%2E%22">Rivolta, C.</searchLink><relatesTo>3,4,5</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Ayuso%2C+C%2E%22">Ayuso, C.</searchLink><relatesTo>1,2</relatesTo> (AUTHOR)<i> cayuso@fjd.es</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Human+Genetics%22">Human Genetics</searchLink>. Dec2021, Vol. 140 Issue 12, p1665-1678. 14p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=153293281 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00439-021-02343-7 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 14 StartPage: 1665 Titles: – TitleFull: NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Perea-Romero, I. – PersonEntity: Name: NameFull: Blanco-Kelly, F. – PersonEntity: Name: NameFull: Sanchez-Navarro, I. – PersonEntity: Name: NameFull: Lorda-Sanchez, I. – PersonEntity: Name: NameFull: Tahsin-Swafiri, S. – PersonEntity: Name: NameFull: Avila-Fernandez, A. – PersonEntity: Name: NameFull: Martin-Merida, I. – PersonEntity: Name: NameFull: Trujillo-Tiebas, M. J. – PersonEntity: Name: NameFull: Lopez-Rodriguez, R. – PersonEntity: Name: NameFull: Rodriguez de Alba, M. – PersonEntity: Name: NameFull: Iancu, I. F. – PersonEntity: Name: NameFull: Romero, R. – PersonEntity: Name: NameFull: Quinodoz, M. – PersonEntity: Name: NameFull: Hakonarson, H. – PersonEntity: Name: NameFull: Garcia-Sandova, Blanca – PersonEntity: Name: NameFull: Minguez, P. – PersonEntity: Name: NameFull: Corton, M. – PersonEntity: Name: NameFull: Rivolta, C. – PersonEntity: Name: NameFull: Ayuso, C. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: Dec2021 Type: published Y: 2021 Identifiers: – Type: issn-print Value: 03406717 Numbering: – Type: volume Value: 140 – Type: issue Value: 12 Titles: – TitleFull: Human Genetics Type: main |
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