Results 161 to 170 of about 3,577,658 (389)
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
Hearing Loss and Cognitive Decline in the Aging Population: Emerging Perspectives in Audiology
Audiology ResearchIn this perspective article, the author explores the connections between hearing loss, central auditory processing, and cognitive decline, offering insights into the complex dynamics at play.
Naveen K. Nagaraj
doaj +1 more source
Obesity Prevalence in DDX3X‐Related Neurodevelopmental Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The purpose of this study is to analyze the prevalence of obesity in those affected by DDX3X‐related neurodevelopmental disorder (DDX3X‐NDD). Initial descriptions suggested that individuals with DDX3X‐NDD suffered from poor weight gain or failure to thrive in early childhood, likely in the setting of feeding difficulties and secondary to ...
Giavanna Verdi, Nathaniel H. Robin
wiley +1 more source
Real-Time Word-Level Temporal Segmentation in Streaming Speech Recognition [PDF]
Rich-text captions are essential to help communication for Deaf and hard-of-hearing (DHH) people, second-language learners, and those with autism spectrum disorder (ASD). They also preserve nuances when converting speech to text, enhancing the realism of presentation scripts and conversation or speech logs. However, current real-time captioning systems
arxiv +1 more source
Is Auditory Steady-State Response Testing the Key for Diagnosing Non-Organic Hearing Disorders? Implications for Current Audiological Practice. [PDF]
J Audiol Otol, 2022 Plioutas J +5 more
europepmc +1 more source
Clinical applications of the human brainstem responses to auditory stimuli [PDF]
A technique utilizing the frequency following response (FFR) (obtained by auditory stimulation, whereby the stimulus frequency and duration are mirror-imaged in the resulting brainwaves) as a clinical tool for hearing disorders in humans of all ages is ...
Galambos, R., Hecox, K.
core +1 more source
Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti +11 more
wiley +1 more source
Journal of International Advanced OtologyBACKGROUND: Middle ear effusion (MEE) and tympanic membrane perforation (TMP) are difficult to distinguish using existing immittance techniques, necessitating the use of a separate test battery.
Arunraj Karuppannan +2 more
doaj +1 more source
Trends in Hearing, 2018 Reverberation enhances music perception and is one of the most important acoustic factors in auditorium design. However, previous research on reverberant music perception has focused on young normal-hearing (YNH) listeners.
Paul N. Reinhart, Pamela E. Souza
doaj +1 more source
Modelling costs and outcomes of newborn hearing screening: The economic part of a German health technology assessment project [PDF]
The prevalence of newborn hearing disorders is 1-3 per 1000. Crucial for later outcome are correct diagnosis and effective treatment in the first year of life. With BERA and TEOAE low-risk techniques for early detection are available. Universal screening
Grill, Eva +3 more
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