- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1750-1172
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
The research output of rod-cone dystrophy genetics ; volume:17 ; number:1 ; day:23 ; month:4 ; year:2022 ; pages:1-12 ; date:12.2022
Orphanet journal of rare diseases ; 17, Heft 1 (23.4.2022), 1-12, 12.2022
- Creator
-
Jaffal, Lama
Mrad, Zamzam
Ibrahim, Mariam
Salami, Ali
Audo, Isabelle
Zeitz, Christina
El Shamieh, Said
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1186/s13023-022-02318-5
- URN
-
urn:nbn:de:101:1-2022070619344611531830
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:26 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
- Jaffal, Lama
- Mrad, Zamzam
- Ibrahim, Mariam
- Salami, Ali
- Audo, Isabelle
- Zeitz, Christina
- El Shamieh, Said
- SpringerLink (Online service)
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Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation
Visual acuity changes in cone and cone-rod dystrophies
Rapid Capsular Contraction with Secondary Intraocular Lens Dislocation Associated with Unspecified Rod-Cone Dystrophy: A Case Report
Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family
Increased H3K27 trimethylation contributes to cone survival in a mouse model of cone dystrophy
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
GNB1-Related Rod-Cone Dystrophy: A Case Report
Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
A natural history study of autosomal dominant GUCY2D-associated cone–rod dystrophy
Cone rod dystrophies
A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation
Visual acuity changes in cone and cone-rod dystrophies
Rapid Capsular Contraction with Secondary Intraocular Lens Dislocation Associated with Unspecified Rod-Cone Dystrophy: A Case Report
Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family
Increased H3K27 trimethylation contributes to cone survival in a mouse model of cone dystrophy
Prevalence and novelty of PRPF31 mutations in French autosomal dominant rod-cone dystrophy patients and a review of published reports
GNB1-Related Rod-Cone Dystrophy: A Case Report
Phenotypic and Genetic Alterations in Adult-Onset Cone and Cone-Rod Dystrophy
Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy
A natural history study of autosomal dominant GUCY2D-associated cone–rod dystrophy
Cone rod dystrophies
A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation
Visual acuity changes in cone and cone-rod dystrophies
Rapid Capsular Contraction with Secondary Intraocular Lens Dislocation Associated with Unspecified Rod-Cone Dystrophy: A Case Report
Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family
Increased H3K27 trimethylation contributes to cone survival in a mouse model of cone dystrophy