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Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1.

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Title: Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1.
Authors: Sallo FB; Oculogenetic Unit, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland., Dysli C; Department of Ophthalmology, Inselspital, University of Bern, Bern, Switzerland., Holzer FJ; Department of Neurology, University Hospitals of Geneva, Geneva, Switzerland., Ranza E; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Guipponi M; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Munier FL; Oculogenetic Unit, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland., Bird AC; Department Medical Retina, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom., Schorderet DF; Institute for Research in Ophthalmology, Sion, Switzerland.; Department of Ophthalmology, University of Lausanne, Lausanne, Switzerland.; Faculty of Life Sciences, Ecole Polytechnique Federal de Lausanne, Lausanne, Switzerland., Rossillion B; Vision Rive Droite SA, Grand-Saconnex, Geneva, Switzerland., Vaclavik V; Oculogenetic Unit, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.; Ophthalmology Department, Hôpital Cantonal de Fribourg, HFR, Fribourg, Switzerland.
Source: Ophthalmology science [Ophthalmol Sci] 2024 Sep 11; Vol. 5 (1), pp. 100618. Date of Electronic Publication: 2024 Sep 11 (Print Publication: 2025).
Publication Type: Journal Article
Journal Info: Publisher: Elsevier, B.V Country of Publication: Netherlands NLM ID: 9918230896206676 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-9145 (Electronic) Linking ISSN: 26669145 NLM ISO Abbreviation: Ophthalmol Sci Subsets: PubMed not MEDLINE
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  Data: Characterization of the Retinal Phenotype Using Multimodal Imaging in Novel Compound Heterozygote Variants of CYP2U1.
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  Data: <searchLink fieldCode="AU" term="%22Sallo+FB%22">Sallo FB</searchLink>; Oculogenetic Unit, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Dysli+C%22">Dysli C</searchLink>; Department of Ophthalmology, Inselspital, University of Bern, Bern, Switzerland.<br /><searchLink fieldCode="AU" term="%22Holzer+FJ%22">Holzer FJ</searchLink>; Department of Neurology, University Hospitals of Geneva, Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Ranza+E%22">Ranza E</searchLink>; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Guipponi+M%22">Guipponi M</searchLink>; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Antonarakis+SE%22">Antonarakis SE</searchLink>; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Munier+FL%22">Munier FL</searchLink>; Oculogenetic Unit, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Bird+AC%22">Bird AC</searchLink>; Department Medical Retina, Moorfields Eye Hospital NHS Foundation Trust, London, United Kingdom.<br /><searchLink fieldCode="AU" term="%22Schorderet+DF%22">Schorderet DF</searchLink>; Institute for Research in Ophthalmology, Sion, Switzerland.; Department of Ophthalmology, University of Lausanne, Lausanne, Switzerland.; Faculty of Life Sciences, Ecole Polytechnique Federal de Lausanne, Lausanne, Switzerland.<br /><searchLink fieldCode="AU" term="%22Rossillion+B%22">Rossillion B</searchLink>; Vision Rive Droite SA, Grand-Saconnex, Geneva, Switzerland.<br /><searchLink fieldCode="AU" term="%22Vaclavik+V%22">Vaclavik V</searchLink>; Oculogenetic Unit, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.; Ophthalmology Department, Hôpital Cantonal de Fribourg, HFR, Fribourg, Switzerland.
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  Data: <searchLink fieldCode="JN" term="%229918230896206676%22">Ophthalmology science</searchLink> [Ophthalmol Sci] 2024 Sep 11; Vol. 5 (1), pp. 100618. <i>Date of Electronic Publication: </i>2024 Sep 11 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%2C+B%2EV%22">Elsevier, B.V </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>9918230896206676 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Internet <i>ISSN: </i>2666-9145 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2226669145%22">26669145 </searchLink><i>NLM ISO Abbreviation: </i>Ophthalmol Sci <i>Subsets: </i>PubMed not MEDLINE
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              Text: 2024 Sep 11
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