Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome.
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| Title: | Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome. |
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| Authors: | Ashraf T; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Clinical Genetics Service, St Michael's hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Vaina C; Department of Pediatrics, Yeovil District Hospital NHS Foundation Trust, Yeovil, Somerset, UK., Giri D; Department of Pediatric Endocrinology and Diabetes, University Hospital Bristol NHS Foundation Trust, Bristol, UK., Burren CP; Department of Pediatric Endocrinology and Diabetes, University Hospital Bristol NHS Foundation Trust, Bristol, UK., James M; Clinical Genetics Service, St Michael's hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Offiah AC; Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK., Overton T; Department of Fetal Medicine, St Michael's Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK., Baptista J; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Smithson SF; Clinical Genetics Service, St Michael's hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2020 Oct; Vol. 182 (10), pp. 2403-2408. Date of Electronic Publication: 2020 Aug 11. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 32783357 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Ashraf+T%22">Ashraf T</searchLink>; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; Clinical Genetics Service, St Michael's hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Vaina+C%22">Vaina C</searchLink>; Department of Pediatrics, Yeovil District Hospital NHS Foundation Trust, Yeovil, Somerset, UK.<br /><searchLink fieldCode="AU" term="%22Giri+D%22">Giri D</searchLink>; Department of Pediatric Endocrinology and Diabetes, University Hospital Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Burren+CP%22">Burren CP</searchLink>; Department of Pediatric Endocrinology and Diabetes, University Hospital Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22James+M%22">James M</searchLink>; Clinical Genetics Service, St Michael's hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Offiah+AC%22">Offiah AC</searchLink>; Department of Oncology and Metabolism, University of Sheffield, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Overton+T%22">Overton T</searchLink>; Department of Fetal Medicine, St Michael's Hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK.<br /><searchLink fieldCode="AU" term="%22Baptista+J%22">Baptista J</searchLink>; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Ellard+S%22">Ellard S</searchLink>; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.<br /><searchLink fieldCode="AU" term="%22Smithson+SF%22">Smithson SF</searchLink>; Clinical Genetics Service, St Michael's hospital, University Hospitals Bristol NHS Foundation Trust, Bristol, UK. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101235741%22">American journal of medical genetics. Part A</searchLink> [Am J Med Genet A] 2020 Oct; Vol. 182 (10), pp. 2403-2408. <i>Date of Electronic Publication: </i>2020 Aug 11. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Blackwell%22">Wiley-Blackwell </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>101235741 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1552-4833 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215524825%22">15524825 </searchLink><i>NLM ISO Abbreviation: </i>Am J Med Genet A <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=32783357 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1002/ajmg.a.61781 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 2403 Titles: – TitleFull: Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Ashraf T – PersonEntity: Name: NameFull: Vaina C – PersonEntity: Name: NameFull: Giri D – PersonEntity: Name: NameFull: Burren CP – PersonEntity: Name: NameFull: James M – PersonEntity: Name: NameFull: Offiah AC – PersonEntity: Name: NameFull: Overton T – PersonEntity: Name: NameFull: Baptista J – PersonEntity: Name: NameFull: Ellard S – PersonEntity: Name: NameFull: Smithson SF IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 10 Text: 2020 Oct Type: published Y: 2020 Identifiers: – Type: issn-electronic Value: 1552-4833 Numbering: – Type: volume Value: 182 – Type: issue Value: 10 Titles: – TitleFull: American journal of medical genetics. Part A Type: main |
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