Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature.
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| Title: | Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature. |
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| Authors: | Chattannavar G; Flaum Eye Institute, Ocular Genetics, Golisano Children's Hospital, Rochester, New York, USA.; Jasti V. Ramanamma Children's Eye Care Centre, Child Sight Institute, L. V. Prasad Eye Institute, Hyderabad, India., Ger M; Anant Bajaj Retina Institute, L. V. Prasad eye Institute, Visakhapatnam, India., Balasubramanian J; Centrogene Rare Disease Diagnostics, Germany., Mandal S; Department of Ophthalmology, All India Institute of Medical Sciences, New Delhi, India., Jalali S; Jasti V. Ramanamma Children's Eye Care Centre, Child Sight Institute, L. V. Prasad Eye Institute, Hyderabad, India.; Srimati Kannuri Santhamma Centre for Vitreoretinal Diseases, Anant Bajaj Retina Institute, L. V. Prasad eye Institute, Hyderabad, India., Takkar B; Srimati Kannuri Santhamma Centre for Vitreoretinal Diseases, Anant Bajaj Retina Institute, L. V. Prasad eye Institute, Hyderabad, India., Pisuchpen P; Department of Ophthalmology, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.; Division of Academic Affairs, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand., de Guimaraes TAC; Institute of Ophthalmology, University College London, London, UK.; Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK., Capasso JE; Flaum Eye Institute, Ocular Genetics, Golisano Children's Hospital, Rochester, New York, USA., Kumar Padhy S; Vitreo-Retina, Anant Bajaj Retina Institute, L. V. Prasad Eye Institute, Bhubaneswar, India., Levin AV; Flaum Eye Institute, Ocular Genetics, Golisano Children's Hospital, Rochester, New York, USA. |
| Source: | Ophthalmic genetics [Ophthalmic Genet] 2024 Dec; Vol. 45 (6), pp. 616-622. Date of Electronic Publication: 2024 Oct 15. |
| Publication Type: | Journal Article; Case Reports; Review; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39402987 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Chattannavar+G%22">Chattannavar G</searchLink>; Flaum Eye Institute, Ocular Genetics, Golisano Children's Hospital, Rochester, New York, USA.; Jasti V. Ramanamma Children's Eye Care Centre, Child Sight Institute, L. V. Prasad Eye Institute, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Ger+M%22">Ger M</searchLink>; Anant Bajaj Retina Institute, L. V. Prasad eye Institute, Visakhapatnam, India.<br /><searchLink fieldCode="AU" term="%22Balasubramanian+J%22">Balasubramanian J</searchLink>; Centrogene Rare Disease Diagnostics, Germany.<br /><searchLink fieldCode="AU" term="%22Mandal+S%22">Mandal S</searchLink>; Department of Ophthalmology, All India Institute of Medical Sciences, New Delhi, India.<br /><searchLink fieldCode="AU" term="%22Jalali+S%22">Jalali S</searchLink>; Jasti V. Ramanamma Children's Eye Care Centre, Child Sight Institute, L. V. Prasad Eye Institute, Hyderabad, India.; Srimati Kannuri Santhamma Centre for Vitreoretinal Diseases, Anant Bajaj Retina Institute, L. V. Prasad eye Institute, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Takkar+B%22">Takkar B</searchLink>; Srimati Kannuri Santhamma Centre for Vitreoretinal Diseases, Anant Bajaj Retina Institute, L. V. Prasad eye Institute, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Pisuchpen+P%22">Pisuchpen P</searchLink>; Department of Ophthalmology, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok, Thailand.; Division of Academic Affairs, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.<br /><searchLink fieldCode="AU" term="%22de+Guimaraes+TAC%22">de Guimaraes TAC</searchLink>; Institute of Ophthalmology, University College London, London, UK.; Department of Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Capasso+JE%22">Capasso JE</searchLink>; Flaum Eye Institute, Ocular Genetics, Golisano Children's Hospital, Rochester, New York, USA.<br /><searchLink fieldCode="AU" term="%22Kumar+Padhy+S%22">Kumar Padhy S</searchLink>; Vitreo-Retina, Anant Bajaj Retina Institute, L. V. Prasad Eye Institute, Bhubaneswar, India.<br /><searchLink fieldCode="AU" term="%22Levin+AV%22">Levin AV</searchLink>; Flaum Eye Institute, Ocular Genetics, Golisano Children's Hospital, Rochester, New York, USA. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229436057%22">Ophthalmic genetics</searchLink> [Ophthalmic Genet] 2024 Dec; Vol. 45 (6), pp. 616-622. <i>Date of Electronic Publication: </i>2024 Oct 15. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Case Reports; Review; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Informa+Healthcare%22">Informa Healthcare </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9436057 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1744-5094 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2213816810%22">13816810 </searchLink><i>NLM ISO Abbreviation: </i>Ophthalmic Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39402987 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1080/13816810.2024.2411257 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 616 Titles: – TitleFull: Bardet-Biedl syndrome with chorioretinal coloboma: a case series and review of literature. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Chattannavar G – PersonEntity: Name: NameFull: Ger M – PersonEntity: Name: NameFull: Balasubramanian J – PersonEntity: Name: NameFull: Mandal S – PersonEntity: Name: NameFull: Jalali S – PersonEntity: Name: NameFull: Takkar B – PersonEntity: Name: NameFull: Pisuchpen P – PersonEntity: Name: NameFull: de Guimaraes TAC – PersonEntity: Name: NameFull: Capasso JE – PersonEntity: Name: NameFull: Kumar Padhy S – PersonEntity: Name: NameFull: Levin AV IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: 2024 Dec Type: published Y: 2024 Identifiers: – Type: issn-electronic Value: 1744-5094 Numbering: – Type: volume Value: 45 – Type: issue Value: 6 Titles: – TitleFull: Ophthalmic genetics Type: main |
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