[HTML][HTML] Nonsyndromic Hearing Loss and Deafness, DFNA3–RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY
Nonsyndromic Hearing Loss and Deafness, DFNA3 – RETIRED CHAPTER, FOR HISTORICAL
REFERENCE ONLY - Abstract - Europe PMC Sign in | Create an account https://orcid.org …
REFERENCE ONLY - Abstract - Europe PMC Sign in | Create an account https://orcid.org …
AudioGene: refining the natural history of KCNQ4, GSDME, WFS1, and COCH-associated hearing loss
Autosomal dominant non-syndromic hearing loss (ADNSHL) displays gene-specific
progression of hearing loss, which is amenable to sequential audioprofiling. We sought to …
progression of hearing loss, which is amenable to sequential audioprofiling. We sought to …
Exome sequencing utility in defining the genetic landscape of hearing loss and novel‐gene discovery in Iran
Hearing loss (HL) is one of the most common sensory defects affecting more than 466
million individuals worldwide. It is clinically and genetically heterogeneous with over 120 …
million individuals worldwide. It is clinically and genetically heterogeneous with over 120 …
DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?
Deafness due to mutations in the DFNA5 gene is caused by the aberrant splicing of exon 8,
which results in a constitutively active truncated protein. In a large family of European …
which results in a constitutively active truncated protein. In a large family of European …
Genome-first approach to rare EYA4 variants and cardio-auditory phenotypes in adults
While newborns and children with hearing loss are routinely offered genetic testing, adults
are rarely clinically tested for a genetic etiology. One clinically actionable result from genetic …
are rarely clinically tested for a genetic etiology. One clinically actionable result from genetic …
A Big Data Perspective on the Genomics of Hearing Loss.
B Vona, M Müller, S Dofek, M Holderried… - Laryngo-Rhino …, 2019 - europepmc.org
The completion of the human genome, the most fundamental example of big data in science
and medicine, is the remarkable product of multidisciplinary collaboration and is regarded …
and medicine, is the remarkable product of multidisciplinary collaboration and is regarded …
Computational analysis based on audioprofiles: A new possibility for patient stratification in office-based otology
O Weininger, A Warnecke, A Lesinski-Schiedat… - Audiology …, 2019 - mdpi.com
Genetic contribution to progressive hearing loss in adults is underestimated. Established
machine learning-based software could offer a rapid supportive tool to stratify patients with …
machine learning-based software could offer a rapid supportive tool to stratify patients with …
A Genome-First Approach to Rare Variants in Dominant Postlingual Hearing Loss Genes in a Large Adult Population
Objective To investigate the importance of rare variants in adult-onset hearing loss. Study
Design Genomic association study. Setting Large biobank from tertiary care center. Methods …
Design Genomic association study. Setting Large biobank from tertiary care center. Methods …
[HTML][HTML] Big data in der Diagnostik genetischer Schwerhörigkeit
B Vona, M Müller, S Dofek, M Holderried… - Laryngo-Rhino …, 2019 - thieme-connect.com
Die vollständige Sequenzierung des menschlichen Genoms demonstriert als ein
grundlegendes Beispiel eindrucksvoll die Entstehung einer großen Datenmenge (engl.: big …
grundlegendes Beispiel eindrucksvoll die Entstehung einer großen Datenmenge (engl.: big …
AGTD-The AudioGene Translational Dashboard; a Hybrid Machine Learning and Visualization Interface for Genetic Diagnosis of Autosomal Dominant Non-Syndromic …
B DeSollar - 2024 - search.proquest.com
Abstract Autosomal Dominant Non-Syndromic Hearing Loss (ADNSHL) presents a major
genetic diagnosis challenge due to the complex heterogeneity of the molecular basis of the …
genetic diagnosis challenge due to the complex heterogeneity of the molecular basis of the …