相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Identification of MYO6 copy number variation associated with cochlear aplasia by targeted sequencing
Lianhua Sun et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2020)
Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach
Bong Jik Kim et al.
GENETICS IN MEDICINE (2020)
Genetics of Usher Syndrome: New Insights From a Meta-analysis
Guillaume Jouret et al.
OTOLOGY & NEUROTOLOGY (2019)
STRC Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population
Simona Poisson Markova et al.
GENETIC TESTING AND MOLECULAR BIOMARKERS (2018)
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss
Christina M. Sloan-Heggen et al.
HUMAN GENETICS (2016)
Genetics of Hearing Loss Syndromic
Tal Koffler et al.
OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA (2015)
HRCT and MRI findings in X-linked non-syndromic deafness patients with a POU3F4 mutation
Wu-Xian Gong et al.
INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY (2014)
Genetics: advances in genetic testing for deafness
A. Eliot Shearer et al.
CURRENT OPINION IN PEDIATRICS (2012)
Non-USH2A mutations in USH2 patients
Thomas Besnard et al.
HUMAN MUTATION (2012)
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes
Julie M. Schultz et al.
JOURNAL OF MEDICAL GENETICS (2011)
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome
Yuzhou Zhang et al.
JOURNAL OF MEDICAL GENETICS (2007)
Current concepts: Newborn hearing screening - A silent revolution
CC Morton et al.
NEW ENGLAND JOURNAL OF MEDICINE (2006)