Targeted next generation sequencing for molecular diagnosis of Usher syndrome
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1750-1172
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
Targeted next generation sequencing for molecular diagnosis of Usher syndrome ; volume:9 ; number:1 ; day:18 ; month:11 ; year:2014 ; pages:1-15 ; date:12.2014
Orphanet journal of rare diseases ; 9, Heft 1 (18.11.2014), 1-15, 12.2014
- Urheber
-
Aparisi, Maria J.
- Beteiligte Personen und Organisationen
-
Aller, Elena
Fuster-García, Carla
Garcia-Garcia, Gema
Rodrigo, Regina
Vázquez-Manrique, Rafael P.
Blanco-Kelly, Fiona
Ayuso, Carmen
Roux, Anne-Françoise
Jaijo, Teresa
Millan, Jose M.
SpringerLink (Online service)
- DOI
-
10.1186/s13023-014-0168-7
- URN
-
urn:nbn:de:1111-2016050125591
- Rechteinformation
-
Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
14.08.2025, 10:59 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Aparisi, Maria J.
- Aller, Elena
- Fuster-García, Carla
- Garcia-Garcia, Gema
- Rodrigo, Regina
- Vázquez-Manrique, Rafael P.
- Blanco-Kelly, Fiona
- Ayuso, Carmen
- Roux, Anne-Françoise
- Jaijo, Teresa
- Millan, Jose M.
- SpringerLink (Online service)
Ähnliche Objekte (12)
The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis
Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma
Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma
Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
Evaluation of next generation sequencing platforms for population targeted sequencing studies
Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative
MPD: multiplex primer design for next-generation targeted sequencing
Targeted next-generation sequencing - a promising approach in the diagnosis of Mycobacterium tuberculosis and drug resistance
The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis
Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma
Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma
Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
Evaluation of next generation sequencing platforms for population targeted sequencing studies
Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative
MPD: multiplex primer design for next-generation targeted sequencing
Targeted next-generation sequencing - a promising approach in the diagnosis of Mycobacterium tuberculosis and drug resistance
The position of targeted next-generation sequencing in epidermolysis bullosa diagnosis
Targeted next generation sequencing of RB1 gene for the molecular diagnosis of Retinoblastoma
Targeted exome sequencing reveals novel USH2A mutations in Chinese patients with simplex Usher syndrome
Advantages of a next generation sequencing targeted approach for the molecular diagnosis of retinoblastoma
Targeted next-generation sequencing-based molecular diagnosis of congenital hand malformations in Chinese population
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
Evaluation of next generation sequencing platforms for population targeted sequencing studies
Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis
Molecular Diagnosis of 34 Japanese Families with Leber Congenital Amaurosis Using Targeted Next Generation Sequencing
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative
MPD: multiplex primer design for next-generation targeted sequencing