Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1476-5438
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Diagnostic yield of panel-based genetic testing in syndromic inherited retinal disease ; volume:28 ; number:5 ; day:13 ; month:12 ; year:2019 ; pages:576-586 ; date:5.2020
European journal of human genetics ; 28, Heft 5 (13.12.2019), 576-586, 5.2020
- Creator
-
Jiman, Omamah A.
Taylor, Rachel L.
Lenassi, Eva
Smith, Jill Clayton
Douzgou, Sofia
Ellingford, Jamie M.
Barton, Stephanie
Hardcastle, Claire
Fletcher, Tracy
Campbell, Christopher
Ashworth, Jane
Biswas, Susmito
Ramsden, Simon C.
Manson, Forbes D.
Black, Graeme C.
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1038/s41431-019-0548-5
- URN
-
urn:nbn:de:101:1-2021012920555839496329
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:32 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
- Jiman, Omamah A.
- Taylor, Rachel L.
- Lenassi, Eva
- Smith, Jill Clayton
- Douzgou, Sofia
- Ellingford, Jamie M.
- Barton, Stephanie
- Hardcastle, Claire
- Fletcher, Tracy
- Campbell, Christopher
- Ashworth, Jane
- Biswas, Susmito
- Ramsden, Simon C.
- Manson, Forbes D.
- Black, Graeme C.
- SpringerLink (Online service)
Other Objects (12)
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases
Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
Relative frequency of inherited retinal dystrophies in Brazil
Early Visual Symptom Patterns in Inherited Retinal Dystrophies
Genetic testing and diagnosis of inherited retinal diseases
Genotype-Phenotype Correlations in Syndromic Forms of Hereditary Retinal Diseases
The socioeconomic epidemiology of inherited retinal diseases in Portugal
Systemic inflammation induced by lipopolysaccharide aggravates inherited retinal dystrophy
Gene Editing in pig models of inherited retinal diseases
Cellular imaging of inherited retinal diseases using adaptive optics
The genetic landscape of inherited retinal dystrophies in Arabs
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases
Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
Relative frequency of inherited retinal dystrophies in Brazil
Early Visual Symptom Patterns in Inherited Retinal Dystrophies
Genetic testing and diagnosis of inherited retinal diseases
Genotype-Phenotype Correlations in Syndromic Forms of Hereditary Retinal Diseases
The socioeconomic epidemiology of inherited retinal diseases in Portugal
Systemic inflammation induced by lipopolysaccharide aggravates inherited retinal dystrophy
Gene Editing in pig models of inherited retinal diseases
Cellular imaging of inherited retinal diseases using adaptive optics
The genetic landscape of inherited retinal dystrophies in Arabs
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases
Retinal prolactin isoform PRLΔE1 sustains rod disease in inherited retinal degenerations
Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies
Relative frequency of inherited retinal dystrophies in Brazil
Early Visual Symptom Patterns in Inherited Retinal Dystrophies
Genetic testing and diagnosis of inherited retinal diseases
Genotype-Phenotype Correlations in Syndromic Forms of Hereditary Retinal Diseases
The socioeconomic epidemiology of inherited retinal diseases in Portugal
Systemic inflammation induced by lipopolysaccharide aggravates inherited retinal dystrophy
Gene Editing in pig models of inherited retinal diseases
Cellular imaging of inherited retinal diseases using adaptive optics