Results 51 to 60 of about 25,171 (314)
Frontiers in Digital Health, 2021 Even before the COVID-19 pandemic, there was mounting interest in remote testing solutions for audiology. The ultimate goal of such work was to improve access to hearing healthcare for individuals that might be unable or reluctant to seek audiological ...
Gregory M. Ellis +2 more
doaj +1 more source
Speech and Language Disorders Associated With 7q31 Deletions Implicating FOXP2
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Some 7q31 deletions encompass FOXP2, a gene long associated with speech and language disorders. Intragenic pathogenic FOXP2 variants cause FOXP2‐related speech and language disorder, which has been well characterized in the literature. Conversely, the phenotype associated with 7q31 deletions is neglected.
Lottie D. Morison +3 more
wiley +1 more source
Journal of Applied Oral Science, 2009 The CD-ROM "Voice Assessment: Speech-Language Pathology and Audiology & Medicine" was developed as a teaching tool for people interested in the production of the spoken or sung human voice.
Millena Maria Ramalho Matta Vieira +2 more
doaj +1 more source
CLCN4‐Related Neurodevelopmental Condition: Characterization of Speech and Language Abilities
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Speech and language difficulties are a core feature of the CLCN4‐related neurodevelopmental condition, but these have not been well described. Here we systematically phenotype speech and language in 13 participants (10 female, aged 1 year 10 months–41 years 10 months) with pathogenic CLCN4 variants (12 missense de novo, 1 premature stop codon ...
Alexandra Garrett +4 more
wiley +1 more source
Chemicals, noise and occupational hearing health in South Africa: A mapping study
South African Journal of Communication Disorders, 2020 Background: Chemical exposure leading to ototoxicity is a fresh challenge for occupational healthcare in South Africa. Objectives: The critical question is: ‘what is known about occupational ototoxic chemicals with or without noise exposure in South ...
Mershen Pillay
doaj +1 more source
Impact of the COVID-19 pandemic on audiology services in South Africa: A preliminary study
Health SA Gesondheid: Journal of Interdisciplinary Health Sciences, 2023 Background: Hygiene-, work practices, travel, personal interactions and access to healthcare services changed for the majority of the world during the pandemic.
Katerina Ehlert
doaj +1 more source
Current audiological diagnostics
GMS current topics in otorhinolaryngology, head and neck surgery, 2017 GMS Current Topics in Otorhinolaryngology - Head and Neck Surgery; 16 ...
Hoth, S, Baljic, I
openaire +5 more sources
Trisomy 5p: Long Recognized, Rarely Published‐ Three New Cases and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Complete trisomy 5p is a rare chromosomal disorder caused by a duplication of the short arm of chromosome 5. Current data suggest that complete trisomy 5p presents as a distinct clinical syndrome including but not limited to seizures, developmental delays, facial dysmorphisms, failure to thrive, and recurrent respiratory infections.
Gabriela J. Kim +2 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart +336 more
wiley +1 more source
JMIR Medical EducationBackgroundArtificial intelligence (AI) chatbots, such as ChatGPT-4, have shown immense potential for application across various aspects of medicine, including medical education, clinical practice, and research.
Shangqiguo Wang +5 more
doaj +1 more source