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Deafness, Autosomal Recessive 16

Known as: DFNB16 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Copy number variations (CNVs) are commonly reported in STRC, the causal gene for DFNB16. Various techniques are used clinically… 
2019
2019
Hearing loss is the most frequent sensory disorder and is genetically extremely heterogeneous. By far the most frequent cause of… 
2019
2019
HYPOTHESIS We hypothesized that patients with DFNB16 caused hearing loss show characteristical audiological findings depending on… 
2018
2018
Vestibular disorders comprise a heterogeneous group of diseases with transient or permanent loss of vestibular function… 
Highly Cited
2014
Highly Cited
2014
Increasing attention has been directed toward assessing mutational fallout of stereocilin (STRC), the gene underlying DFNB16. A… 
Highly Cited
2011
Highly Cited
2011
Stereocilin is defective in a recessive form of deafness, DFNB16. We studied the distribution of stereocilin in the developing… 
Review
2009
Review
2009
Background: International databases with information on copy number variation of the human genome are an important reference for… 
Review
2002
Review
2002
Hereditary deafness has proved to be extremely heterogeneous genetically with more than 40 genes mapped or cloned for non… 
1999
1999
We thank the members of family S040 for their kind cooperation. We are also grateful to Prof. Jacques S. Beckmann for his kind… 
1997
1997
Non-syndromal, recessive deafness (NSRD) is the most common form of inherited deafness or hearing impairment in humans. NSRD is…