- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1750-1172
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Novel gene variants in Polish patients with Leber congenital amaurosis (LCA) ; volume:15 ; number:1 ; day:11 ; month:12 ; year:2020 ; pages:1-19 ; date:12.2020
Orphanet journal of rare diseases ; 15, Heft 1 (11.12.2020), 1-19, 12.2020
- Creator
-
Skorczyk-Werner, Anna
Niedziela, Zuzanna
Stopa, Marcin
Krawczyński, Maciej Robert
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1186/s13023-020-01634-y
- URN
-
urn:nbn:de:101:1-2021011819352363644721
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:36 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
- Skorczyk-Werner, Anna
- Niedziela, Zuzanna
- Stopa, Marcin
- Krawczyński, Maciej Robert
- SpringerLink (Online service)
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Nonsense variants of STAG2 result in distinct congenital anomalies
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Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS
Die Leber'sche congenitale Amaurose (LCA) : neuro-ophthalmologische Syndrome mit Bezug zur LCA
Social LCA in progress
Phases of an LCA
Kleinbildkamera "LOMO", LC-A
Das Xilinx-LCA-Format
Is mainstream LCA linear?
Das Xilinx-LCA-Format
An Assessment of GUCA1C Variants in Primary Congenital Glaucoma
Nonsense variants of STAG2 result in distinct congenital anomalies
Molecular investigations of the pathogenesis of Leber congenital amaurosis
lca_algebraic: a library bringing symbolic calculus to LCA for comprehensive sensitivity analysis
Molecular background of Leber congenital amaurosis in a Polish cohort of patients—novel variants discovered by NGS
Die Leber'sche congenitale Amaurose (LCA) : neuro-ophthalmologische Syndrome mit Bezug zur LCA
Social LCA in progress
Phases of an LCA
Kleinbildkamera "LOMO", LC-A
Das Xilinx-LCA-Format
Is mainstream LCA linear?
Das Xilinx-LCA-Format
An Assessment of GUCA1C Variants in Primary Congenital Glaucoma
Nonsense variants of STAG2 result in distinct congenital anomalies
Molecular investigations of the pathogenesis of Leber congenital amaurosis