Results 61 to 70 of about 68,781 (307)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates +6 more
wiley +1 more source
Brazilian Journal of Otorhinolaryngology, 2011 Para que haja um aprendizado adequado, a criança necessita ter audição satisfatória. A triagem auditiva escolar é importante, pois permite a detecção de casos que passaram despercebidos pela família.
Janaina Cândida Rodrigues Nogueira +1 more
doaj +1 more source
Evaluation of Accuracy and Reliability of a Mobile Screening Audiometer in Normal Hearing Adults
Frontiers in Psychology, 2020 Quantifying hearing thresholds via mobile self-assessment audiometric applications has been demonstrated repeatedly with heterogenous results regarding the accuracy.
Angela Colsman +4 more
doaj +1 more source
Virtual audiometric testing using smartphone mobile applications to detect hearing loss
Laryngoscope Investigative Otolaryngology, 2022 Objective The COVID‐19 pandemic drove the need for remote audiometric testing in the form of mobile applications for hearing assessment. This study sought to determine the accuracy of two smartphone‐based hearing assessment applications, Mimi and uHear ...
Lekha V. Yesantharao +4 more
doaj +1 more source
Hearing Tests Based on Biologically Calibrated Mobile Devices: Comparison With Pure-Tone Audiometry
JMIR mHealth and uHealth, 2018 Background Hearing screening tests based on pure-tone audiometry may be conducted on mobile devices, provided that the devices are specially calibrated for the purpose. Calibration consists of determining the reference sound level and can be performed in
M. Masalski, T. Grysiński, T. Kręcicki
semanticscholar +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss +8 more
wiley +1 more source
Classification of audiograms in the prevention of noise-induced hearing loss: A clinical perspective
South African Journal of Communication Disorders, 2020 Background: Noise induced hearing loss (NIHL) is a major contributor to disabling hearing loss. Engineering controls are superior to hearing protection devices (HPDs) in prevention of occupational noise induced hearing loss (ONIHL), although the latter ...
Zumbi Musiba
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani +17 more
wiley +1 more source
Working Environment and Scope of Otorhinolaryngology Laboratory Personnel in South Korea
Korean Journal of Clinical Laboratory Science, 2023 This study aimed to examine the types and characteristics of otorhinolaryngology examinations performed by clinical laboratory technologists and to investigate the working environment and scope of work of otorhinolaryngology laboratory personnel using ...
Younghoi AN +7 more
doaj +1 more source
Hearing with a cochlear implant: from bionic to bimodal listening [PDF]
, 2014 Introduction: Currently, cochlear implantation (CI) is the standard procedure for bilateral severe hearing loss in both children and adults. However, a considerable number of hearing-impaired patients, who are candidates for CI, have residual hearing in ...
Dhooge, Ingeborg +2 more
core +1 more source