Results 111 to 120 of about 127,275 (301)
Neural Plasticity, 2016 Nonsyndromic deafness is genetically heterogeneous but phenotypically similar among many cases. Though a variety of targeted next-generation sequencing (NGS) panels has been recently developed to facilitate genetic screening of nonsyndromic deafness ...
Penghui Chen +5 more
doaj +1 more source
, 2005 The pathology of hearing loss is a very difficult problem. The serious approach to the treatment of deafness was applied throughout centuries, especially from the fifteenth century onwards, while in Croatia from not earlier than the nineteenth century ...
Nikola Kirinčić
core
Quality of Life in Children Who Are Deaf or Hard‐of‐Hearing and Their Families—A Scoping Review
The Laryngoscope, EarlyView.This scoping review examines how quality of life is conceptualized and studied in young deaf and hard‐of‐hearing children and their families. The findings reveal inconsistent use of the term Quality of life, limiting cross‐study comparisons. Additionally, research is focused on children with cochlear implants while other groups remain underrepresented.
Nina Jakhelln Laugen +2 more
wiley +1 more source
Molecular genetic studies of deafness [PDF]
, 1999 The aim of this work on the molecular genetics of deafness was to study the molecular basis of deafness in several families with non-syndromic and syndromic forms of deafness, including X-linked deafness and autosomal recessive Jervell and Lange-Nielsen ...
Tyson, Jessica Grace
core +1 more source
Imaging in sensorineural deafness.
, 2002 In this paper, the authors describe, in details, the techniques and the indication of CT scanner and MRI for the evaluation of neurosensory deafness. CT scanner allows to study bony and pneumatized structures of the ear.
Decat, Monique, Cosnard, Guy
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Movement Disorders Clinical Practice, EarlyView.Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño +6 more
wiley +1 more source
KAT8‐Low Osteosarcoma Suppresses Cisplatin Sensitivity via H4K16ac‐Mediated Cell Apoptosis
Med Research, EarlyView.The scientific significance of this study is highlighted below: (1) Data mining and clinical discovery: These findings establish a direct clinical link between the KAT8–H4K16ac axis and chemotherapy response in osteosarcoma. (2) Multi‐omics and machine‐learning integration: We integrated proteomics and CUT&Tag multi‐omics to elucidate how chromatin ...
Zhenqun Zhao +12 more
wiley +1 more source
CHARGE Syndrome: What an Otolaryngologist Should Know—A Systematic Review and Meta‐Analysis
Otolaryngology–Head and Neck Surgery, EarlyView.Abstract Objective To synthesize the prevalence of otolaryngologic manifestations in CHARGE syndrome (CS) to support otolaryngologists in delivering comprehensive management. Data Sources PubMed/MEDLINE, Embase, and Google Scholar were searched for English‐ and French‐language studies published from January 1980 through January 2025.
Camille Caron +5 more
wiley +1 more source