USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1471-2415
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
USH2A gene variants cause Keratoconus and Usher syndrome phenotypes in Pakistani families ; volume:21 ; number:1 ; day:29 ; month:4 ; year:2021 ; pages:1-8 ; date:12.2021
BMC ophthalmology ; 21, Heft 1 (29.4.2021), 1-8, 12.2021
- Creator
-
Ahmed, Asif Naveed
Tahir, Raheel
Khan, Niamat
Ahmad, Mushtaq
Dawood, Muhammad
Basit, Abdul
Yasin, Muhammad
Nowshid, Maha
Marwan, Muhammad
Sultan, Komal
Saleha, Shamim
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1186/s12886-021-01957-9
- URN
-
urn:nbn:de:101:1-2021061704192975167888
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:46 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
- Ahmed, Asif Naveed
- Tahir, Raheel
- Khan, Niamat
- Ahmad, Mushtaq
- Dawood, Muhammad
- Basit, Abdul
- Yasin, Muhammad
- Nowshid, Maha
- Marwan, Muhammad
- Sultan, Komal
- Saleha, Shamim
- SpringerLink (Online service)
Other Objects (12)
Identification of genetic variants in two families with Keratoconus
Spigel, Usher
Kaplan, Usher
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
Bildnis des Usher
Geldi, Nachem Usher
Keratoconus International Consortium (KIC)- advancing keratoconus research
Pakistani
Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I
Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss
Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families
Identification of genetic variants in two families with Keratoconus
Spigel, Usher
Kaplan, Usher
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
Bildnis des Usher
Geldi, Nachem Usher
Keratoconus International Consortium (KIC)- advancing keratoconus research
Pakistani
Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I
Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss
Whole exome sequencing highlights variants in association with Keratoconus in Jordanian families
Identification of genetic variants in two families with Keratoconus
Spigel, Usher
Kaplan, Usher
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
Bildnis des Usher
Geldi, Nachem Usher
Keratoconus International Consortium (KIC)- advancing keratoconus research
Pakistani
Novel compound heterozygous CDH23 variants in a patient with Usher syndrome type I
Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss