Results 141 to 150 of about 771,137 (341)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT KDM1A‐related neurodevelopmental disorder (CPRF, OMIM #616728) is characterized by cleft palate, global developmental delay, and distinct facial gestalt, but phenotypic knowledge of this ultra‐rare autosomal dominant disorder is limited. Here, we report on a 13‐year‐old boy with a novel heterozygous, likely pathogenic germline missense variant
Sebastian Burkart +6 more
wiley +1 more source
Prevalence and Factors Associated With Hearing Loss and Hearing Aid Use in Korean Elders
Iranian Journal of Public Health, 2015 Background: This study examined hearing loss prevalence and hearing aid usage rates among Korean elders by comparing the differences between those with and without hearing loss, and between those who used and did not use hearing aids.
Ji-Su Kim
doaj
ELECTRO ACOUSTICAL CHARACTERISTIC AND ARTICULATION SCORES OF HEARING AID
, 1958 Morihiro Seki
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Study of hearing-aid fitting parameters with a manikin [PDF]
, 1974 Mahlon D. Burkhard
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AP2M1 Is a Candidate Gene for Microcephaly and Intellectual Disability in 3q27.1 Deletions
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Deletions of the 3q26.33q27.2 region appear to correlate with a distinct phenotype, although there are few reported cases. Here, we present seven previously unreported individuals carrying de novo 3q27 deletions (under 5 Mb), which include the AP2M1 (adaptor‐related protein complex 2, mu‐1 subunit) gene and summarize data from 12 previously ...
Russell Gear +16 more
wiley +1 more source
THE INDICATION OF HEARING AID BY PURE TONE AUDIOMETRY
, 1958 T. NAGAHAMA, Y. TAKEI, T. SAMEZIMA
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THE ASSESSMENT OF THE VALUE OF THREE TYPES OF HEARING AID TO OVERCOME THE COMMUNICATION BARRIER OF DEAFNESS IN THE ELDERLY PATIENT IN THE HOSPITAL SETTING [PDF]
, 1973 Martin Hall
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods +16 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Keratosis–ichthyosis–deafness (KID) syndrome is a rare autosomal dominant ectodermal disease caused by mutations in the GJB2 gene, which encodes the gap junction protein Connexin 26 (Cx26) located on Chr. 13q12.11. This study presents the first mortality analysis associated with KID syndrome, focusing on a case report of a Latin American ...
Leslie Patrón‐Romero +17 more
wiley +1 more source