Search filters

List of works by Sedigheh Delmaghani

Clarin-1 gene transfer rescues auditory synaptopathy in model of Usher syndrome

article

Clarin-2 is essential for hearing by maintaining stereocilia integrity and function

scientific article published on 26 August 2019

DFNB40, a recessive form of sensorineural hearing loss, maps to chromosome 22q11.21-12.1.

scientific article published in October 2003

Defect in the gene encoding the EAR/EPTP domain-containing protein TSPEAR causes DFNB98 profound deafness

scientific article

High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects

scientific article

Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes

scientific article published in November 2015

Inner Ear Gene Therapies Take Off: Current Promises and Future Challenges

scientific article published on 21 July 2020

Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome

scientific article published on 10 March 2003

Mutation analysis of TMC1 identifies four new mutations and suggests an additional deafness gene at loci DFNA36 and DFNB7/11

scientific article published on 9 July 2008

Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness

scientific article

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

scientific journal article

Ultrarare heterozygous pathogenic variants of genes causing dominant forms of early-onset deafness underlie severe presbycusis

scientific article published on 23 November 2020

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin

scientific article

Paulina is supported by:

About Paulina

Help