Results 151 to 160 of about 1,118,655 (360)

Simultaneous idiopathic bilateral sudden hearing loss - characteristics and response to treatment

open access: yesBrazilian Journal of Otorhinolaryngology
Introduction The aetiology of sudden hearing loss is poorly defined; however, infectious, vascular and neoplastic aetiologies are presumed to be responsible. In addition, the aetiology of bilateral sudden hearing loss is also unknown.
Ferit Akil   +5 more
doaj   +1 more source

Proceedings: best practices in hearing loss prevention (October 28, 1999, Detroit, Michigan). [PDF]

open access: gold, 2001
Alice H. Suter   +6 more
openalex   +1 more source

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

open access: yesAmerican 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

Steven Bornstein, Associate Professor of Communication Sciences and Disorders, College of Health and Human Services, Travels to Rusia [PDF]

open access: yes, 2009
Professor Steven Bornstein traveled to Russia in November 2008 to present a paper at Mari-State University in Yoshkar-Ola, Russia, on the effects of hearing loss on oral language and speech ...
Bornstein, Robert P
core   +1 more source

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

open access: yesAmerican 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   +6 more
wiley   +1 more source

Ear disease in Aboriginal and Torres Strait Islander children [PDF]

open access: yes
This resource sheet reviews past and current programs, research and strategies (both government and non-government) for the prevention and treatment of ear disease in Indigenous children.

core  

HUBUNGAN FUNGSITIROID DENGAN GANGGUAN PENDENGARAN PADA ANAK SINDROM DOWN [PDF]

open access: yes, 2015
Background: Children with Down syndrome have increased risk of health problems. Two common health problems in children with Down syndrome are thyroid dysfunction and hearing disorder.
Margono, Irwan Arif   +2 more
core   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat   +4 more
wiley   +1 more source

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

open access: yesAmerican 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   +7 more
wiley   +1 more source

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