- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
1432-1203
- Umfang
-
Online-Ressource
- Sprache
-
Englisch
- Anmerkungen
-
online resource.
- Erschienen in
-
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans ; day:26 ; month:1 ; year:2021 ; pages:1-17
Human genetics; (26.1.2021), 1-17
- Urheber
-
Vona, Barbara
Mazaheri, Neda
Lin, Sheng-Jia
Dunbar, Lucy A.
Maroofian, Reza
Azaiez, Hela
Booth, Kevin T.
Vitry, Sandrine
Rad, Aboulfazl
Rüschendorf, Franz
Varshney, Pratishtha
Fowler, Ben
Beetz, Christian
Alagramam, Kumar N.
Murphy, David
Shariati, Gholamreza
Sedaghat, Alireza
Houlden, Henry
Petree, Cassidy
VijayKumar, Shruthi
Smith, Richard J. H.
Haaf, Thomas
El-Amraoui, Aziz
Bowl, Michael R.
Varshney, Gaurav K.
Galehdari, Hamid
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1007/s00439-020-02254-z
- URN
-
urn:nbn:de:101:1-2021031718125959671468
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:29 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
- Vona, Barbara
- Mazaheri, Neda
- Lin, Sheng-Jia
- Dunbar, Lucy A.
- Maroofian, Reza
- Azaiez, Hela
- Booth, Kevin T.
- Vitry, Sandrine
- Rad, Aboulfazl
- Rüschendorf, Franz
- Varshney, Pratishtha
- Fowler, Ben
- Beetz, Christian
- Alagramam, Kumar N.
- Murphy, David
- Shariati, Gholamreza
- Sedaghat, Alireza
- Houlden, Henry
- Petree, Cassidy
- VijayKumar, Shruthi
- Smith, Richard J. H.
- Haaf, Thomas
- El-Amraoui, Aziz
- Bowl, Michael R.
- Varshney, Gaurav K.
- Galehdari, Hamid
- SpringerLink (Online service)
Ähnliche Objekte (12)
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss
A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families
Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF
Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients
DNA methylation in hearing-related genes in non-syndromic sensorineural hearing loss patients
Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy
THBS1 is a new autosomal recessive non-syndromic hearing impairment gene
Copy number variants are a common cause of non-syndromic hearing loss
Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss
A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families
Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF
Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients
DNA methylation in hearing-related genes in non-syndromic sensorineural hearing loss patients
Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy
THBS1 is a new autosomal recessive non-syndromic hearing impairment gene
Copy number variants are a common cause of non-syndromic hearing loss
Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria
A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans
A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss
A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families
Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF
Splice-altering variant of PJVK gene in a Mauritanian family with non-syndromic hearing impairment
Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients
DNA methylation in hearing-related genes in non-syndromic sensorineural hearing loss patients
Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy
THBS1 is a new autosomal recessive non-syndromic hearing impairment gene
Copy number variants are a common cause of non-syndromic hearing loss