Results 191 to 200 of about 676,775 (349)

N645 session : A review of automated audiometry devices and portable smartphone or tablet-based hearing testing systems in otology [PDF]

, 2016
Allan Ho
openalex   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Public Health. [PDF]

Alzheimers Dement
Speaks HR, Duncan MS, Abner EL.
europepmc   +2 more sources

Are conversation and whispered voice hearing tests comparable to pure tone audiometry for assessment of hearing loss? A retrospective analysis. [PDF]

Med J Armed Forces India
Singh A, Joshi KD, Chauhan I, Kanzhuly MK, Gaurav V, Kumari A, Thapa S.   +6 more
europepmc   +1 more source

Clinical Presentation of the Longest Reported Living Individual With Bent Bone Dysplasia—FGFR2‐Related

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The FGFR2 gene, encoding the FGFR2 protein, plays a crucial role in embryonic cell development, particularly in bone tissue. Bent Bone Dysplasia (BBD), FGFR2‐related (MIM# 614592), is a rare severe skeletal dysplasia characterized by craniofacial differences, reduced bone mineral density, and bowed long bones.
Cheyenne Bates, Pardeep Gill, Matthew Choi, Frances Mahon, Blake Yarascavitch, Audrey Lim, Resham Ejaz   +6 more
wiley   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss, Amanda V. Karam, Julia Shalen, David E. Tunkel, Belina Y. Yi, Kelsey S. Guthrie, Emily M. Kudalkar, Anna E. Patrick, Sonja A. Rasmussen   +8 more
wiley   +1 more source

Hearing Tests Based on Biologically Calibrated Mobile Devices: Comparison With Pure-Tone Audiometry.

JMIR Mhealth Uhealth, 2018
Masalski M, Grysiński T, Kręcicki T.
europepmc   +1 more source

Development and validation of a South African English smartphone-based speech-in-noise hearing test

, 2017
Jenni-Mari Engelbrecht
openalex   +1 more source

The effects of noise exposure and work-related fatigue on the acceptable noise level test in normal-hearing people

, 2021
Nafiseh Heidari, Ahmad Geshani, Nematollah Rouhbakhsh, Elham Faghihzadeh, Mohammad Mehdi Alishahi   +4 more
openalex   +1 more source

Hearing Impairments in Preterm Infants: Factors Associated with Discrepancies between Screening and Confirmatory Test Results [PDF]

, 2020
Jung Ho Han, Jeong Eun Shin, Soon Min Lee, Ho Seon Eun, Min Soo Park, Kook In Park   +5 more
openalex   +1 more source