scholarly article | Q13442814 |
P50 | author | Zeynep Tumer | Q57568842 |
P2093 | author name string | L Tranebjaerg | |
I Schrijver | |||
M Lodahl | |||
N D Rendtorff | |||
T Johnsen | |||
J Rodriguez-Paris | |||
E C Hansén | |||
L A A Nickelsen | |||
R Wetke | |||
T Fagerheim | |||
P2860 | cites work | Mutation analysis of SLC26A4 for Pendred syndrome and nonsyndromic hearing loss by high-resolution melting | Q35069947 |
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA | Q36976334 | ||
A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans | Q46350444 | ||
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA). | Q50437495 | ||
Causes of hearing impairment in the Norwegian paediatric cochlear implant program | Q50437687 | ||
P433 | issue | 4 | |
P304 | page(s) | 388-391 | |
P577 | publication date | 2013-01-22 | |
P1433 | published in | Clinical Genetics | Q5133760 |
P1476 | title | SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations | |
P478 | volume | 84 |
Q50307265 | A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct |
Q30403140 | A study of deafness-related genetic mutations as a basis for strategies to prevent hereditary hearing loss in Hebei, China |
Q38848690 | Cochlear implantation in Pendred syndrome and non-syndromic enlarged vestibular aqueduct - clinical challenges, surgical results, and complications |
Q41091624 | Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing |
Q90460593 | Genetic Epidemiology and Clinical Features of Hereditary Hearing Impairment in the Taiwanese Population |
Q37426513 | Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China |
Q34960772 | Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts |
Q64243010 | Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis |
Q55340300 | Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects. |
Q38214755 | Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss. |
Q46298127 | Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort |
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