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Andrea M. Oza et al.
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Congenital hearing loss
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
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Michaela Thoenes et al.
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Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing
Guangqian Xing et al.
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The LINC complex is essential for hearing
Henning F. Horn et al.
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Genotype-Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations
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ACTA OTO-LARYNGOLOGICA (2006)
GJB2 mutations and degree of hearing loss:: A multicenter study
RL Snoeckx et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Clinical features of patients with GJB2 (connexin 26) mutations:: severity of hearing loss is correlated with genotypes and protein expression patterns
T Oguchi et al.
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Preservation of residual hearing in children and post-lingually deafened adults after cochlear implantation: An initial study
H Skarzynski et al.
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