- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- Extent
-
1 Online-Ressource.
- Language
-
Englisch
- Bibliographic citation
-
THBS1 is a new autosomal recessive non-syndromic hearing impairment gene ; volume:17 ; number:1 ; day:18 ; month:12 ; year:2024 ; pages:1-7 ; date:12.2024
BMC medical genomics ; 17, Heft 1 (18.12.2024), 1-7, 12.2024
- Creator
-
Bharadwaj, Thashi
Acharya, Anushree
Khan, Fati Ullah
Khan, Saadullah
Ullah, Irfan
Schrauwen, Isabelle
Ahmad, Wasim
Leal, Suzanne M.
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1186/s12920-024-02060-w
- URN
-
urn:nbn:de:101:1-2503010612415.483104956518
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
15.08.2025, 7:23 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
- Bharadwaj, Thashi
- Acharya, Anushree
- Khan, Fati Ullah
- Khan, Saadullah
- Ullah, Irfan
- Schrauwen, Isabelle
- Ahmad, Wasim
- Leal, Suzanne M.
- SpringerLink (Online service)
Other Objects (12)
Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss
Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID)
A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability
A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case
A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability : the WASH complex member SWIP
Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss
Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID)
A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability
A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case
A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families
Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability : the WASH complex member SWIP
Novel compound heterozygous MYO15A splicing variants in autosomal recessive non-syndromic hearing loss
Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss
Genetic Defects Underlie the Non-syndromic Autosomal Recessive Intellectual Disability (NS-ARID)
A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family
A novel homozygous mutation in TRAPPC9 gene causing autosomal recessive non-syndromic intellectual disability
A novel missense variant in ESRRB gene causing autosomal recessive non-syndromic hearing loss: in silico analysis of a case
A novel autosomal dominant GREB1L variant associated with non-syndromic hearing impairment in Ghana
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reports
A novel recessive PDZD7 bi-allelic mutation in an Iranian family with non-syndromic hearing loss
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families