Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway.
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| Title: | Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway. |
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| Authors: | Rustad CF; Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway. cerus@ous-hf.no.; The Medical Faculty, University of Oslo, Oslo, Norway. cerus@ous-hf.no., Bragadottir R; The Medical Faculty, University of Oslo, Oslo, Norway.; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Nordgarden H; National Resource Centre for Oral Health in Rare Disorders, Lovisenberg Diaconal Hospital, Oslo, Norway., Miller JU; Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway., Åsten PM; National Resource Centre for Oral Health in Rare Disorders, Lovisenberg Diaconal Hospital, Oslo, Norway., Vasconcelos G; National Resource Centre for Oral Health in Rare Disorders, Lovisenberg Diaconal Hospital, Oslo, Norway., Kulseth MA; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Olsen HG; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., von der Lippe C; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway., Sigurdardottir S; Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Mar 14; Vol. 20 (1), pp. 127. Date of Electronic Publication: 2025 Mar 14. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 40087798 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Rustad+CF%22">Rustad CF</searchLink>; Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway. cerus@ous-hf.no.; The Medical Faculty, University of Oslo, Oslo, Norway. cerus@ous-hf.no.<br /><searchLink fieldCode="AU" term="%22Bragadottir+R%22">Bragadottir R</searchLink>; The Medical Faculty, University of Oslo, Oslo, Norway.; Department of Ophthalmology, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Tveten+K%22">Tveten K</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Nordgarden+H%22">Nordgarden H</searchLink>; National Resource Centre for Oral Health in Rare Disorders, Lovisenberg Diaconal Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Miller+JU%22">Miller JU</searchLink>; Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Åsten+PM%22">Åsten PM</searchLink>; National Resource Centre for Oral Health in Rare Disorders, Lovisenberg Diaconal Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Vasconcelos+G%22">Vasconcelos G</searchLink>; National Resource Centre for Oral Health in Rare Disorders, Lovisenberg Diaconal Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Kulseth+MA%22">Kulseth MA</searchLink>; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22Holla+ØL%22">Holla ØL</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Olsen+HG%22">Olsen HG</searchLink>; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway.<br /><searchLink fieldCode="AU" term="%22von+der+Lippe+C%22">von der Lippe C</searchLink>; Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.<br /><searchLink fieldCode="AU" term="%22Sigurdardottir+S%22">Sigurdardottir S</searchLink>; Centre for Rare Disorders, Oslo University Hospital, Oslo, Norway. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2025 Mar 14; Vol. 20 (1), pp. 127. <i>Date of Electronic Publication: </i>2025 Mar 14. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=40087798 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-025-03641-3 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 127 Titles: – TitleFull: Clinical and genetic aspects of Bardet-Biedl syndrome in adults in Norway. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Rustad CF – PersonEntity: Name: NameFull: Bragadottir R – PersonEntity: Name: NameFull: Tveten K – PersonEntity: Name: NameFull: Nordgarden H – PersonEntity: Name: NameFull: Miller JU – PersonEntity: Name: NameFull: Åsten PM – PersonEntity: Name: NameFull: Vasconcelos G – PersonEntity: Name: NameFull: Kulseth MA – PersonEntity: Name: NameFull: Holla ØL – PersonEntity: Name: NameFull: Olsen HG – PersonEntity: Name: NameFull: von der Lippe C – PersonEntity: Name: NameFull: Sigurdardottir S IsPartOfRelationships: – BibEntity: Dates: – D: 14 M: 03 Text: 2025 Mar 14 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1750-1172 Numbering: – Type: volume Value: 20 – Type: issue Value: 1 Titles: – TitleFull: Orphanet journal of rare diseases Type: main |
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