Hearing loss and cochlear pathology in the monkey (Macaca) following exposure to high levels of noise [PDF]
, 1978 D. Branch Moody +3 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SETD2 has an essential role in epigenetic regulation. SETD2 pathogenic variants cause neurodevelopmental disorders (SETD2‐NDDs) that most commonly include various degrees of intellectual disability and behavioral disorders, macrocephaly, brain malformations, and generalized overgrowth.
Marie Lucain +11 more
wiley +1 more source
SOME PROBLEMATIC POINTS REGARDING THE COMPENSATION FOR OCCUPATIONAL HEARING LOSS
, 1959 S Katsuki
openalex +2 more sources
Effect of inter-stimulus interval on the production of hearing loss from impulse noise [PDF]
, 1975 Carol R. Perkins +2 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Prenatal and neonatal presentations of multiple congenital anomalies are difficult to diagnose and are associated with an increased risk of lethality. The differential diagnosis of antenatal presentations of radial ray malformations includes Fanconi anemia (FA), an inherited bone marrow failure disorder associated with congenital anomalies in ...
Ethan M. Scott +5 more
wiley +1 more source
Frequency-following response in subjects with complete unilateral hearing loss: evidence for two generators [PDF]
, 1975 David Daly +2 more
openalex +1 more source
Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev +14 more
wiley +1 more source
Measurements of the distortion tone 2f1−f2 in normal‐hearing and high‐frequency‐hearing‐loss subjects [PDF]
, 1975 R. M. Sachs, F. L. Wightman
openalex +1 more source
A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri +3 more
wiley +1 more source
Exploring the Diversity of Music Experiences for Deaf and Hard of Hearing People [PDF]
arXivSensory substitution or enhancement techniques have been proposed to enable deaf or hard of hearing (DHH) people to listen to and even compose music. However, little is known about how such techniques enhance DHH people's music experience. Since deafness is a spectrum -- as are DHH people's preferences and perceptions of music -- a more situated ...
arxiv