Results 221 to 230 of about 75,481 (297)

Unusual Disease‐Progression in Two Siblings With Xeroderma Pigmentosum Group G

Clinical Genetics, Volume 109, Issue 5, Page 984-985, May 2026.
Protein truncation mutations in the gene for XPG nuclease cause a very severe clinical phenotype. Two siblings have splicing mutations, which result in in‐frame deletions and a less severe phenotype.
Elena Botta, Heather Fawcett, Donata Orioli, Hiva Fassihi, Alan R. Lehmann   +4 more
wiley   +1 more source

Risk of mortality in the elderly with different degree of sensorineural hearing loss in Taiwan. [PDF]

Front Neurol
Chen JC, Hsieh PS, Hwang JH.
europepmc   +1 more source

A Cross‐Sectional Study Exploring Patient Experiences, Unmet Needs and Desired Support in Those With Olfactory Dysfunction

Clinical Otolaryngology, Volume 51, Issue 3, Page 466-473, May 2026.
ABSTRACT Objectives Smell and taste disorders (SATDs) are frequently overlooked despite growing prevalence. They profoundly impact quality of life. Effective therapies for SATDs remain scarce. This survey aimed to assess patient views surrounding the support available at the time of onset of SATDs, and what further support is needed.
William Ansley, Gabija Klyvyte, Mehmet Ergisi, Natalia Glibbery, Lois Camp, Prajakta Choudari, Mohammed Jawad, Tharsika Myuran, Nikki Garner, Jane Vennik, Lorenzo Stafford, Felix Naughton, Duncan Boak, Carl Philpott   +13 more
wiley   +1 more source

Differentially expressed exosome miRNA profiles as putative prognostic biomarkers for profound sudden sensorineural hearing loss. [PDF]

BMC Med Genomics
Zhang H, Xie H, Cao Q, Chen P, Yan S, Zhang X, Gao P, Zhang Y.   +7 more
europepmc   +1 more source

COVID-19 Vaccine-Associated Sensorineural Hearing Loss and Tinnitus. [PDF]

Cureus
Szilágyi A, Sztanó B, Juhász B, Szilvássy Z.   +3 more
europepmc   +1 more source

A promising therapeutic approach for post-Lassa fever sensorineural hearing loss: a case report. [PDF]

Oxf Med Case Reports
Saka SA, Blackie FF, Oseghale EE, Akhabule M, Eze OJ, Ebhota AD, Oboh JO, Abumen E, Agbonifo M.   +8 more
europepmc   +1 more source

Identification of sensorineural hearing loss subtypes using unsupervised machine learning and assessment of their replicability. [PDF]

Sci Rep
Dimitrov L, Lilaonitkul W, Mehta N.
europepmc   +1 more source

Identification of a Novel Likely Pathogenic Variant of DIAPH3 Associated With New Phenotype of Sensorineural Hearing Loss. [PDF]

Mol Genet Genomic Med
Zeng L, Zheng Q, Wu X, Chen G, Xie L, Qiu W, Ning F, Bai L, Zhang Q.   +8 more
europepmc   +1 more source

Isolated Sensorineural Hearing Loss as the Sole Manifestation of Granulomatosis with Polyangiitis. [PDF]

Am J Case Rep
Arango A, Mumtaz S, Abril A.
europepmc   +1 more source