Results 131 to 140 of about 71,647 (266)
Universal neonatal hearing screening moving from evidence to practice
, 2004 Recent technological advances have made feasible universal newborn hearing screening and therefore early detection of permanent childhood hearing impairment.
Kennedy, Colin R., McCann, Donna C.
core +1 more source
پزشکی بالینی ابن سینا, 2002 Any type of hearing loss can create imperfect development of educational skills in primary school children. In this descriptive study different types of hearing loss in 22152 six years old preschool children of Hamadan province were ...
Farhad Farahani
doaj
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao +122 more
wiley +1 more source
Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy +16 more
wiley +1 more source
Interdisciplinary Approaches to MedicineHearing loss (HL) is defined as a partial or total inability to perceive sounds in one or both ears, varying from mild to profound levels. This study aimed to determine the audiometric profile and clinical features of hearing loss among individuals who ...
Abdul Azeem Rasouli +2 more
doaj +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Hearing loss technology and community at the start of the twenty first century
, 2007 This thesis explores ways in which technology is influencing the lives of hard of hearing people at the start of the 21st century. The thesis develops and is grounded in a distinction between people who referred to as 'deaf' and those who are referred ...
Collins, Susan
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu +23 more
wiley +1 more source
Simultaneous idiopathic bilateral sudden hearing loss - characteristics and response to treatment
Brazilian Journal of OtorhinolaryngologyIntroduction 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