Results 151 to 160 of about 4,472,659 (361)

Long‐Read Genome Sequencing Establishes Biallelic Pathogenic Variants in DNM1 With Distinct Functional Effects as the Cause of Early Infantile Developmental and Epileptic Encephalopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Heterozygous de novo and inherited biallelic pathogenic variants in DNM1 have been reported in association with autosomal dominant (AD) and autosomal recessive (AR) developmental and epileptic encephalopathy, respectively, due to aberrant dynamin function or expression, with each inheritance pattern associated with a different mechanism of ...
Andy Drackley, Merlene Peter, Heba H. Akbari, Jelena Ivanisevic, Alexander Ing, Kelly Regan‐Fendt, Patrick McMullen, Kai Lee Yap   +7 more
wiley   +1 more source

Hearing loss in children with neurodevelopmental or genetic disorders visiting a phoniatric clinic at a tertiary hospital in Cairo

The Egyptian Journal of Otolaryngology
Background Children with special needs often manifest multiple developmental, linguistic, cognitive, and behavioral symptoms. Hearing difficulties could be sometimes misdiagnosed, aggravating the behavioral manifestations and possibly affecting their ...
Heba Tallah Sherif Abd El Hady, Ghada Tarek Orabi   +1 more
doaj   +1 more source

The mitochondrion: A perpetrator of acquired hearing loss

, 2013
Erik C. Böttger, Jochen Schacht
openalex   +2 more sources

The prevalence of hearing loss in infants hospitalized in the neonatal intensive care units

, 2020
Nasrin Gohari, Farhad Farahani, Soraya Gharebaghy, Sanaz Alaei, Shahla Ahmadi, Zahra Mozafari   +5 more
openalex   +1 more source

Psychiatric Comorbidities and Treatment Modalities in Children With Osteogenesis Imperfecta: A Systematic Review of Mental Health

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales, Camille F. Villar, Beatriz Varman, Gianna M. Colombo, Danqi Li, Sarah J. Sadek, Marie‐Eve Robinson, Chaya N. Murali, Kara Ayers, Jocelyn Gomez, Brendan Lee, V. Reid Sutton, Eric A. Storch, Andrew D. Wiese   +13 more
wiley   +1 more source

Resting hearing thresholds in children aged 7-10 years

Archives of Acoustics, 2001
Resting hearing thresholds were measured in 107 children in 7-10 years of age category, from primary schools in Warsaw. The children were recruited regardless of the priority of these in which problems with hearing acuity were observed or ...
A. Jaroszewski, P. Rogowski, A. Rakowski
doaj  

Spectral shaping options for persons with low- or high-frequency sensorineural hearing loss [PDF]

, 1987
Donald J. Schum, M. J. Collins
openalex   +1 more source

Pattern of Hearing Loss, Etiology and Burden of Rehabilitation among Patients in Ondo State University of Medical Sciences

, 2023
Akpalaba IO, Olarinoye TO, Ikong MA, Owolawi WO, Ademokoya JA, James RO   +5 more
openalex   +1 more source

Don't Worry About Her; Intersectionality, and the Role of Systems and Structures in the Embodied Experiences of Young Women's Use of Violence

Australian Journal of Social Issues, EarlyView.
ABSTRACT Systems and structures designed to protect and support young people, specifically (in this paper) young women, are ironically the same systems that maintain gender disparity. Consequently, this has influenced the embodied identities of young women who experience and use violence. Such systemic and structural intersectionality has impacted upon
Louise Rak, Tamara Blakemore, Elsie Randall, Meaghan Katrak Harris   +3 more
wiley   +1 more source

Association of Age-Related Hearing Loss With Cognitive Function, Cognitive Impairment, and Dementia: A Systematic Review and Meta-analysis

JAMA Otolaryngology - Head and Neck Surgery, 2017
David G. Loughrey, M. Kelly, G. Kelley, S. Brennan, B. Lawlor   +4 more
semanticscholar   +1 more source