Pages that link to "Q47376524"
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The following pages link to Evidence of a founder effect for the 235delC mutation of GJB2 (connexin�26) in east Asians (Q47376524):
Displaying 50 items.
- First molecular screening of deafness in the Altai Republic population (Q24793743) (← links)
- Genetics of hearing and deafness (Q26865293) (← links)
- The Genetic Basis of Nonsyndromic Hearing Loss in Indian and Pakistani Populations (Q28087697) (← links)
- A novel splice-site mutation in the GJB2 gene causing mild postlingual hearing impairment (Q28536919) (← links)
- GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss (Q28547852) (← links)
- Spectrum and Frequency of the GJB2 Gene Pathogenic Variants in a Large Cohort of Patients with Hearing Impairment Living in a Subarctic Region of Russia (the Sakha Republic) (Q28552418) (← links)
- Comprehensive genetic screening of KCNQ4 in a large autosomal dominant nonsyndromic hearing loss cohort: genotype-phenotype correlations and a founder mutation. (Q30454347) (← links)
- The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children (Q30485666) (← links)
- Gap-junction channels dysfunction in deafness and hearing loss (Q30490087) (← links)
- Hereditary non-syndromic sensorineural hearing loss: transforming silence to sound (Q30543886) (← links)
- A next-generation sequencing gene panel (MiamiOtoGenes) for comprehensive analysis of deafness genes (Q30729587) (← links)
- Sequencing of GJB2 in Cameroonians and Black South Africans and comparison to 1000 Genomes Project Data Support Need to Revise Strategy for Discovery of Nonsyndromic Deafness Genes in Africans (Q30845348) (← links)
- Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment (Q34016253) (← links)
- High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects (Q34117173) (← links)
- A Low-Cost Exon Capture Method Suitable for Large-Scale Screening of Genetic Deafness by the Massively-Parallel Sequencing Approach (Q34222871) (← links)
- A rapid method for simultaneous screening of multi-gene mutations associated with hearing loss in the Korean population (Q34613043) (← links)
- Carrier frequency of GJB2 gene mutations c.35delG, c.235delC and c.167delT among the populations of Eurasia. (Q34622800) (← links)
- Absence of GJB2 gene mutations, the GJB6 deletion (GJB6-D13S1830) and four common mitochondrial mutations in nonsyndromic genetic hearing loss in a South African population (Q34999808) (← links)
- Genetic mutations in non-syndromic deafness patients of Uyghur and Han Chinese ethnicities in Xinjiang, China: a comparative study (Q35289974) (← links)
- Residual Hearing in DFNB1 Deafness and Its Clinical Implication in a Korean Population (Q35659718) (← links)
- Mutation Spectrum of Common Deafness-Causing Genes in Patients with Non-Syndromic Deafness in the Xiamen Area, China (Q35739700) (← links)
- The genetic bases for non-syndromic hearing loss among Chinese (Q35879586) (← links)
- Haplotype Diversity and Reconstruction of Ancestral Haplotype Associated with the c.35delG Mutation in the GJB2 (Cx26) Gene among the Volgo-Ural Populations of Russia (Q38634490) (← links)
- Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population (Q38635834) (← links)
- Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment (Q36200344) (← links)
- Evidence for a founder mutation causing DFNA5 hearing loss in East Asians (Q36208771) (← links)
- A systematic review and meta-analysis of 235delC mutation of GJB2 gene (Q36235919) (← links)
- Screening of deafness-causing DNA variants that are common in patients of European ancestry using a microarray-based approach (Q36300634) (← links)
- Hereditary sensorineural hearing loss: advances in molecular genetics and mutation analysis (Q36481115) (← links)
- GJB2 mutations in Mongolia: complex alleles, low frequency, and reduced fitness of the deaf (Q36539080) (← links)
- Construction of a DNA chip for screening of genetic hearing loss (Q37165767) (← links)
- Molecular analysis of the GJB2, GJB6 and SLC26A4 genes in Korean deafness patients (Q37269361) (← links)
- Digenic inheritance of non-syndromic deafness caused by mutations at the gap junction proteins Cx26 and Cx31 (Q37332766) (← links)
- Genetic mutations in nonsyndromic deafness patients of Chinese minority and Han ethnicities in Yunnan, China (Q37426513) (← links)
- Connexin-26 mutations in deafness and skin disease. (Q37638797) (← links)
- A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation (Q39250956) (← links)
- Associations between GJB2, mitochondrial 12S rRNA, SLC26A4 mutations, and hearing loss among three ethnicities (Q41232716) (← links)
- EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus (Q41824758) (← links)
- Strategies for genetic study of hearing loss in the Brazilian northeastern region (Q41987718) (← links)
- Sequence Variations and Haplotypes of the GJB2 Gene Revealed by Resequencing of 192 Chromosomes from the General Population in Korea. (Q42738599) (← links)
- GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in east Greenland (Q44547483) (← links)
- Carrier frequency of GJB2 (connexin-26) mutations causing inherited deafness in the Korean population (Q44989767) (← links)
- Determination of the carrier frequencies of selected GJB2 mutations in the Korean population. (Q45776071) (← links)
- SNPscan as a high-performance screening tool for mutation hotspots of hearing loss-associated genes (Q50352519) (← links)
- GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort (Q50358248) (← links)
- Evaluation of newborn screening bloodspot-based genetic testing as second tier screen for bedside newborn hearing screening (Q50433027) (← links)
- Evidence for Central Asian Origin of the p.Val27Ile Variant in theGJB2Gene (Q59052070) (← links)
- A rapid improved multiplex ligation detection reaction method for the identification of gene mutations in hereditary hearing loss (Q64056903) (← links)
- Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation (Q89759317) (← links)
- Haplotype Analysis of GJB2 Mutations: Founder Effect or Mutational Hot Spot? (Q89975749) (← links)