Results 41 to 50 of about 13,557 (247)

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

Otoacoustic emissions [PDF]

International Journal of Pediatric Otorhinolaryngology, 1995
G A, van Zanten, L, Collet, K, van Haver, D T, Kemp, R, Probst   +4 more
  +7 more sources

Expanding the Genotype–Phenotype Correlation of Marden–Walker Syndrome due to PIEZO2 Gene Variants: A Case Report From Brazil

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston, Carolina de Souza Araujo, Fernanda Araujo Romera, André Luis Ferreira, Érica Trovisco Martins, Carolina Galhós de Aguiar, José Eduardo Mourão Santos, Rodrigo Ragazzini, Daniela Testoni Costa‐Nobre, Ana Claudia Yoshikumi Prestes, Allan Chiaratti de Oliveira, Eduardo Perrone, Débora Gusmão Melo, Anne Caroline Barbosa Teixeira, Antonio Victor Campos Coelho, Caio Robledo D’Angioli Costa Quaio, Carolina Araujo Moreno, Eduardo Perrone, Jose Bandeira do Nascimento Junior, Jessica Grasiela Araujo Espolaor, Joana Rosa Marques Prota, Joao Bosco de Oliveira Filho, Jose Ricardo Magliocco Ceroni, Kelin Chen, Letícia Torres Ferreira, Lucas Santos de Santana, Luciana Souto Mofatto, Luiza do Amaral Virmond, Marina de Franca Basto Silva, Michele Patricia Migliavacca, Renata Moldenhauer Minillo, Renata Yoshiko Yamada, Roberta Sitnik, Tatiana Ferreira de Almeida, Thiago Yoshinaga Tonholo Silva, Vivian Pedigone Cintra   +35 more
wiley   +1 more source

Mesna in Otologic Surgery: Efficacy and Safety—A Scoping Review

The Laryngoscope, EarlyView.
PRISMA flow diagram indicating the process of systematic inclusion and exclusion of articles. ABSTRACT Objective Mesna (Sodium 2‐mercaptoethanesulfonate) is widely used as a mucolytic agent and uroprotective agent. Recently, its disulfide bond‐breaking property has been applied in otologic surgery to facilitate safer dissection of cholesteatoma and ...
Kevork H. Atamian, Inabat Yermesheva, Ostap Orishchak, Hady Tall, Sam J. Daniel   +4 more
wiley   +1 more source

Stimulus Frequency Otoacoustic Emission Delays and Generating Mechanisms in Guinea Pigs, Chinchillas, and Simulations [PDF]

, 2015
According to coherent reflection theory (CRT), stimulus frequency otoacoustic emissions (SFOAEs) arise from cochlear irregularities coherently reflecting energy from basilar membrane motion within the traveling-wave peak. This reflected energy arrives in
Berezina-Greene, Maria A., Guinan Jr, John J   +1 more
core   +1 more source

ABOUT CORRELATION BETWEEN INDUCED OTOACOUSTIC EMISSION AND PROPERTIES OF HUMAN HEARING

Medična Informatika ta Inženerìâ, 2013
It was held a comparative analysis of subjective and objective audiometry. It was established the following compliance: dependence ∆f = 1/∆t on fp, which is defined by the signal of delayed otoacoustic emissions, quantitatively coincides with the average
О. O. Zubchenko
doaj   +1 more source

Hubungan Riwayat Kelahiran Prematur dan BBLR dengan Gangguan Pendengaran pada Anak di RSUP Haji Adam Malik Periode 2016-2018

Scripta Score Scientific Medical Journal, 2021
Background: Children with preterm labor and low birth weight history tend to suffer various health complications, from growth and development problems, inadequate organ functions, and central nervous system disturbances.
Sonyalita Gultom, Andrina Y. M. Rambe
doaj   +1 more source

Sensory hyperacusis as a predictor of anxiety in adolescence

Journal of Child Psychology and Psychiatry, EarlyView.
Background An increasing number of children report anxiety in early to mid‐adolescence. Early identification of risk during the transition from primary to secondary schools (age 11) could enhance family‐ or school‐based interventions. While known predictors of adolescent anxiety provide some insight, there is a need to identify and understand ...
Foteini Tseliou, Stephan Collishaw, Alice Price, Petroc Sumner   +3 more
wiley   +1 more source

A convolutional neural-network model of human cochlear mechanics and filter tuning for real-time applications

, 2020
Auditory models are commonly used as feature extractors for automatic speech-recognition systems or as front-ends for robotics, machine-hearing and hearing-aid applications. Although auditory models can capture the biophysical and nonlinear properties of
Baby, Deepak, Broucke, Arthur Van Den, Verhulst, Sarah   +2 more
core   +1 more source

Individual differences in auditory brainstem response wave characteristics : relations to different aspects of peripheral hearing loss [PDF]

, 2016
Little is known about how outer hair cell loss interacts with noise-induced and age-related auditory nerve degradation (i.e., cochlear synaptopathy) to affect auditory brainstem response (ABR) wave characteristics.
Ernst, Frauke, Jagadeesh, Anoop, Mauermann, Manfred, Verhulst, Sarah   +3 more
core   +4 more sources