Results 81 to 90 of about 142,411 (242)

Systematic Review and Meta-Analysis of the Application of Virtual Reality in Hearing Disorders. [PDF]

J Audiol Otol, 2022
Kwak C, Han W, Bahng J.
europepmc   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Evaluation of the Recovery of Idiopathic Sudden Sensorineural Hearing Loss Based on Estimated Hearing Disorders. [PDF]

Audiol Res, 2022
Nishimura T, Okayasu T, Morimoto C, Akasaka S, Kitahara T, Hosoi H.   +5 more
europepmc   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Hearing loss and tinnitus: association studies for complex-hearing disorders in mouse and man. [PDF]

Hum Genet, 2022
Boussaty EC, Friedman RA, Million Veteran Program, Clifford RE.   +3 more
europepmc   +1 more source

Denial of Inpatient Genetic Testing: A Study on Outpatient Yield and Outcomes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic conditions suspected in children often require genetic testing for accurate diagnoses, but testing remains costly. Case management teams review genetic test requests to improve access for patients while reducing the financial burden for medical institutions.
Cindy Y. Canales, Kathleen Shields, Meagan Choates, Paul Hillman, Laura Farach, Theresa Wittman, Kathryn Leal   +6 more
wiley   +1 more source

Genome Sequencing in 19 Families With Bladder Exstrophy and Epispadias Complex Indicates Involvement of the ADGR‐Gene Family

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld, Samara Alm, Jesper Eisfeldt, Jia Cao, Magnus Anderberg, Gillian Barker, Hans Matsson, Gundela Holmdahl, Anna Lindstrand, Kristina Lagerstedt‐Robinson   +9 more
wiley   +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, Vlastarakos PV, Delidis A, Vasileiou A, Nikolopoulos TP, Maragoudakis P.   +5 more
europepmc   +1 more source

Examining the Impact of Domestic and Family Violence on Young Australians’ School‐Level Education

Australian Journal of Social Issues, EarlyView.
ABSTRACT Australian policy and practice increasingly acknowledges the need to respond to children as victim‐survivors of domestic and family violence (DFV) in their own right. As part of this, and in recognition that schools often have the most consistent contact with young people experiencing DFV, there is mounting recognition of the role education ...
Rebecca Stewart, Kate Fitz‐Gibbon, Steven Roberts   +2 more
wiley   +1 more source

Investigation Into the Dynamics of the Cupula in the Vestibular Organ of Adult Zebrafish Using Metabolic Glycoengineering

Angewandte Chemie, EarlyView.
The cupula is a membrane within the vestibular organ that senses rotatory accelerations of the head. Metabolic glycoengineering in combination with bioorthogonal labeling demonstrates that in adult zebrafish – being a model for the human inner ear – this membrane is constantly renewed.
Hans Scherer, Andrea Jüngst, Verena F. Schöwe, Anne‐Katrin Gronewald, Valentin Wittmann   +4 more
wiley   +2 more sources