Results 111 to 120 of about 204,571 (299)

Whole exome sequencing in adult-onset hearing loss reveals a high load of predicted pathogenic variants in known deafness-associated genes and identifies new candidate genes

BMC Medical Genomics, 2018
Background Deafness is a highly heterogenous disorder with over 100 genes known to underlie human non-syndromic hearing impairment. However, many more remain undiscovered, particularly those involved in the most common form of deafness: adult-onset ...
Morag A. Lewis, Lisa S. Nolan, Barbara A. Cadge, Lois J. Matthews, Bradley A. Schulte, Judy R. Dubno, Karen P. Steel, Sally J. Dawson   +7 more
doaj   +1 more source

Hospital Admission Profile Related to Inner Ear Diseases in England and Wales. [PDF]

Healthcare (Basel), 2023
Taybeh EO, Naser AY.
europepmc   +1 more source

Diseases of the Ear.

Journal of the American Medical Association, 1909
n ...
openaire   +3 more sources

Negotiating contested spaces and places: Narratives of social suffering and resistance in racialized Cape Town communities

American Journal of Community Psychology, EarlyView.
Abstract This study employs a schizocartographic approach to explore community narratives of space, memory, and violence in Kraaifontein, Cape Town. Through participants' accounts, ordinary places—gardens, shops, blocks, sports grounds, and streets—emerge as ambivalent geographies where trauma, resilience, and belonging intersect.
Guido Veronese, Chiara Fiscone, Ashraf Kagee   +2 more
wiley   +1 more source

The epidemiology of canine ear diseases in Northwest China: Analysis of data on 221 dogs from 2012 to 2016. [PDF]

Vet World, 2023
Li JP, Li LY, T FL, Lu DZ.
europepmc   +1 more source

Image-Based Artificial Intelligence Technology for Diagnosing Middle Ear Diseases: A Systematic Review. [PDF]

J Clin Med, 2023
Song D, Kim T, Lee Y, Kim J.
europepmc   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Systemic Immune Inflammatory Index of Patients With Idiopathic Sudden Sensorineural Hearing Loss: Comparison of NLR and PRL Values

Ear, Nose & Throat Journal, 2021
Şahin Ulu MD, Abdullah Kınar MD, Abdulkadir Bucak MD, Murat Özdemir MD   +3 more
doaj   +1 more source

The Critical Role of Fractionated Urine Glycosaminoglycans in the Evaluation of Mucopolysaccharidosis Type II in Four Unrelated Families

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen, Monika Izdebski, Allison Paltzer, Rachel Hickey, Laura Pollard, Joshua Baker   +5 more
wiley   +1 more source

Diagnosis of Tympanic Membrane Disease and Pediatric Hearing Using Convolutional Neural Network Models with Multi-Layer Perceptrons

Applied Sciences
In this study, we propose a method of classification for tympanic membrane diseases and regression of pediatric hearing, using a deep learning model of artificial neural networks.
Hongchang Lee, Hyeonung Jang, Wangsu Jeon, Seongjun Choi   +3 more
doaj   +1 more source