Results 131 to 140 of about 3,598,435 (367)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone +13 more
wiley +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
Beyond averaging: A transformer approach to decoding event related brain potentials
NeuroImageThe objective of this study is to assess the potential of a transformer-based deep learning approach applied to event-related brain potentials (ERPs) derived from electroencephalographic (EEG) data. Traditional methods involve averaging the EEG signal of
Philipp Zelger +6 more
doaj +1 more source
Syndrome of the Month: Bosma Arhinia Microphthalmia Syndrome
American Journal of Medical Genetics Part A, EarlyView.
Katherine J. K. Patterson +2 more
wiley +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
A scoping review of interaction dynamics in minimally verbal autistic individuals
Frontiers in PsychologyInteraction dynamics provide information about how social interactions unfold over time and have implications for communication development. Characterizing social interaction in autistic people who are minimally verbal (MV) has the potential to ...
Olivia Boorom, Talia Liu
doaj +1 more source
Group follow up proposal for elderly with hearing aids
Brazilian Journal of Otorhinolaryngology, 2007 Summary: Implementing rehabilitation programs to hearing impaired adults is of great importance, mainly in the elderly population, and it is necessary to add them to the routine of outpatient care programs.
Eliara Pinto Vieira +5 more
doaj +1 more source
Psychosocial factors in functional articulation disorders revealed through parent interviews [PDF]
, 1960 Thesis (Ed.M.)--Boston ...
Wakstein, Dorothy Joyce +1 more
core +1 more source
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
Integrating pharmacogenomics into clinical trials of hearing disorders. [PDF]
J Acoust Soc Am, 2022 Brutnell TP, Wang X, Bao J.
europepmc +1 more source