Lv1
70 积分 2025-11-24 加入
Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing
3天前
已完结
Functional characterization of putative novel splicing mutations in the cardiomyopathy-causing genes
3天前
已完结
Comprehensive interpretation of single-nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss
1个月前
已完结
Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21
1个月前
已关闭
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling
1个月前
已完结
A Genotype-Phenotype Correlation with Gender-Effect for Hearing Impairment Caused by <i>TECTA</i> Mutations
1个月前
已完结
Four novelTMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss
1个月前
已完结
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain
1个月前
已完结
Prevalent SLC26A4 Mutations in Patients with Enlarged Vestibular Aqueduct and/or Mondini Dysplasia: A Unique Spectrum of Mutations in Taiwan, Including a Frequent Founder Mutation
1个月前
已完结
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