Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data.
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| Title: | Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data. |
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| Authors: | Orr, Sarah1 (AUTHOR), Olinger, Eric1 (AUTHOR), Iosifidou, Sotia1 (AUTHOR), Barroso‐Gil, Miguel1 (AUTHOR), Neatu, Ruxandra1 (AUTHOR), Wood, Katrina2 (AUTHOR), Wilson, Ian3 (AUTHOR), Sayer, John Andrew1,4,5 (AUTHOR) John.sayer@ncl.ac.uk |
| Source: | Annals of Human Genetics. Jan2024, Vol. 88 Issue 1, p76-85. 10p. |
| 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: 174237120 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Orr%2C+Sarah%22">Orr, Sarah</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Olinger%2C+Eric%22">Olinger, Eric</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Iosifidou%2C+Sotia%22">Iosifidou, Sotia</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Barroso‐Gil%2C+Miguel%22">Barroso‐Gil, Miguel</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Neatu%2C+Ruxandra%22">Neatu, Ruxandra</searchLink><relatesTo>1</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wood%2C+Katrina%22">Wood, Katrina</searchLink><relatesTo>2</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Wilson%2C+Ian%22">Wilson, Ian</searchLink><relatesTo>3</relatesTo> (AUTHOR)<br /><searchLink fieldCode="AR" term="%22Sayer%2C+John+Andrew%22">Sayer, John Andrew</searchLink><relatesTo>1,4,5</relatesTo> (AUTHOR)<i> John.sayer@ncl.ac.uk</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22Annals+of+Human+Genetics%22">Annals of Human Genetics</searchLink>. Jan2024, Vol. 88 Issue 1, p76-85. 10p. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=174237120 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/ahg.12508 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 10 StartPage: 76 Titles: – TitleFull: Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic data. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Orr, Sarah – PersonEntity: Name: NameFull: Olinger, Eric – PersonEntity: Name: NameFull: Iosifidou, Sotia – PersonEntity: Name: NameFull: Barroso‐Gil, Miguel – PersonEntity: Name: NameFull: Neatu, Ruxandra – PersonEntity: Name: NameFull: Wood, Katrina – PersonEntity: Name: NameFull: Wilson, Ian – PersonEntity: Name: NameFull: Sayer, John Andrew IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: Jan2024 Type: published Y: 2024 Identifiers: – Type: issn-print Value: 00034800 Numbering: – Type: volume Value: 88 – Type: issue Value: 1 Titles: – TitleFull: Annals of Human Genetics Type: main |
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