Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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1 Online-Ressource.
- Language
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Englisch
- Bibliographic citation
-
Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene ; volume:14 ; number:1 ; day:10 ; month:8 ; year:2024 ; pages:1-9 ; date:12.2024
Scientific reports ; 14, Heft 1 (10.8.2024), 1-9, 12.2024
- Creator
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Di Iorio, Enzo
Adamo, Ginevra Giovanna
Sorrentino, Ugo
De Nadai, Katia
Barbaro, Vanessa
Mura, Marco
Pellegrini, Marco
Boaretto, Francesca
Tavolato, Marco
Suppiej, Agnese
Nasini, Francesco
Salviati, Leonardo
Parmeggiani, Francesco
- Contributor
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SpringerLink (Online service)
- DOI
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10.1038/s41598-024-69640-9
- URN
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urn:nbn:de:101:1-2410292108394.486685391420
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:39 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Di Iorio, Enzo
- Adamo, Ginevra Giovanna
- Sorrentino, Ugo
- De Nadai, Katia
- Barbaro, Vanessa
- Mura, Marco
- Pellegrini, Marco
- Boaretto, Francesca
- Tavolato, Marco
- Suppiej, Agnese
- Nasini, Francesco
- Salviati, Leonardo
- Parmeggiani, Francesco
- SpringerLink (Online service)
Other Objects (12)
Retinitis pigmentosa
Ueber Retinitis pigmentosa
Über Retinitis pigmentosa
Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study
Pupillenlichtreflexe bei Retinitis pigmentosa
Retinitis pigmentosa und Glaukom
Om Retinitis pigmentosa : Akademisk afhandling
Ueber Retinitis pigmentosa : Inaug. - Diss.
Ueber Retinitis pigmentosa : Inaugural-Dissertations
Retinitis pigmentosa and ocular blood flow
Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa
EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening
Retinitis pigmentosa
Ueber Retinitis pigmentosa
Über Retinitis pigmentosa
Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study
Pupillenlichtreflexe bei Retinitis pigmentosa
Retinitis pigmentosa und Glaukom
Om Retinitis pigmentosa : Akademisk afhandling
Ueber Retinitis pigmentosa : Inaug. - Diss.
Ueber Retinitis pigmentosa : Inaugural-Dissertations
Retinitis pigmentosa and ocular blood flow
Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa
EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening
Retinitis pigmentosa
Ueber Retinitis pigmentosa
Über Retinitis pigmentosa
Genotypic and phenotypic profiles of EYS gene-related retinitis pigmentosa: a retrospective study
Pupillenlichtreflexe bei Retinitis pigmentosa
Retinitis pigmentosa und Glaukom
Om Retinitis pigmentosa : Akademisk afhandling
Ueber Retinitis pigmentosa : Inaug. - Diss.
Ueber Retinitis pigmentosa : Inaugural-Dissertations
Retinitis pigmentosa and ocular blood flow
Identification of a novel homozygous nonsense mutation in EYS in a Chinese family with autosomal recessive retinitis pigmentosa