Results 1 - 7 of 7 results
Human pendrin expressed in Xenopus laevis oocytes mediates chloride/formate exchange. , Scott DA., Am J Physiol Cell Physiol. January 1, 2000; 278 (1): C207-11.
[Identification of two heterozygous mutations in the SLC26A4/PDS gene in a family with Pendred-syndrome]. , Birkenhäger R., Laryngorhinootologie. December 1, 2004; 83 (12): 831-5.
[Evidence of a novel gene for the LAV-syndrome]. , Birkenhäger R., Laryngorhinootologie. February 1, 2007; 86 (2): 102-6.
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms? , Choi BY., Hum Mutat. April 1, 2009; 30 (4): 599-608.
Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome. , Yang T., Am J Hum Genet. May 1, 2009; 84 (5): 651-7.
Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians. , Choi BY., Genet Test Mol Biomarkers. October 1, 2009; 13 (5): 679-87.
RNA-Seq and microarray analysis of the Xenopus inner ear transcriptome discloses orthologous OMIM(®) genes for hereditary disorders of hearing and balance. , Ramírez-Gordillo D., BMC Res Notes. November 18, 2015; 8 691.