Results 201 to 210 of about 30,564 (313)

Carrier screening for Alport syndrome: The clinical importance of heterozygosity for pathogenic or likely pathogenetic variants

open access: yesJournal of Genetic Counseling, Volume 34, Issue 3, June 2025.
Abstract Reproductive carrier screening aims to identify individuals at an increased chance of having children affected by genetic conditions. However, testing can also reveal health implications for autosomal or X‐chromosome heterozygotes. One such example is screening for Alport syndrome (COL4A3‐5‐related disease) which is one of the most common ...
Vivienne Souter   +6 more
wiley   +1 more source

Assessment of the incidence of sensorineural hearing loss among infants admitted to neonatal intensive care unit in health centers of Golestan University of Medical Sciences, Iran [PDF]

open access: yes, 2014
Materials and methods: In this prospective cohort study, 870 neonates were recruited by nonrandom sampling method. After filling in the demographic and clinical check lists, automated auditory brainstem response (AABR) was performed for neonates at the ...
Alaee, E., Fouladinejad, M., Sirati, M.
core  

Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31 [PDF]

open access: bronze, 2000
Martin Vollmer   +13 more
openalex   +1 more source

Association of Metabolic Dysfunction‐Associated Steatotic Liver Disease With Sudden Sensorineural Hearing Loss Among Older Adults

open access: yesLaryngoscope Investigative Otolaryngology, Volume 10, Issue 3, June 2025.
This study investigates the association between MASLD and sudden sensorineural hearing loss (SSNHL) among older adults in Korea. Our findings suggest a potential link between MASLD and an increased risk of SSNHL, emphasizing the need for further research and clinical awareness of this association. ABSTRACT Objectives This study examined the association
Eun Seok Kang   +7 more
wiley   +1 more source

Sudden Low-tone Sensorineural Deafness

open access: bronze, 1990
Eiko Tanaka   +4 more
openalex   +2 more sources

Sudden Sensorineural Deafness [PDF]

open access: yesProceedings of the Royal Society of Medicine, 1976
openaire   +3 more sources

Home - About - Disclaimer - Privacy