Results 171 to 180 of about 140,032 (296)

A Cryptic CBFB Deletion–Inversion Expands the Mutational Spectrum of Variants Associated With Cleidocranial Dysplasia

open access: yesClinical Genetics, Volume 108, Issue 1, Page 86-91, July 2025.
Following clinical review of a 100 000 Genomes Project family with genetically‐unsolved CCD, we manually inspected read‐alignments and identified a deletion‐inversion‐deletion that removes the first two exons of CBFB. This cryptic variant comprised deletions of 1310/1935bp, was undetectable by array‐CGH and was likely mediated by palindromic AluSx ...
Alistair T. Pagnamenta   +6 more
wiley   +1 more source

Systematic Review and Meta‐Analysis of Audiometric Parameters for Assistive Hearing Technology for Adults and Children With Tympanic Membrane Perforation

open access: yesClinical Otolaryngology, Volume 50, Issue 4, Page 589-599, July 2025.
ABSTRACT Introduction Tympanic membrane perforation can cause hearing impairment with detrimental effects on communication and quality of life, and is a problem affecting an estimated 250 million people. To date, there is little analysis to inform public policy on options for assistive hearing technology rehabilitation in this group.
Thomas Hampton   +3 more
wiley   +1 more source

Patient with swollen ear

open access: yesJournal of the American College of Emergency Physicians Open, 2020
Timothy J. Barbosa   +2 more
doaj   +1 more source

Otitis Media [PDF]

open access: yesOtolaryngology–Head and Neck Surgery, 1992
openaire   +2 more sources

Anti‐neutrophil cytoplasmic antibodies associated interstitial pneumonia: A possible new clinical entity

open access: yesEuropean Journal of Clinical Investigation, Volume 55, Issue 7, July 2025.
In a study of 101 idiopathic interstitial pneumonia (IIP) and interstitial pneumonia with autoimmune features (IPAF) patients, 21 (20.8%) were ANCA‐positive. ANCA+ patients had higher rates of NSIP, bronchiectasis, arthralgias, and elevated CRP, with 43% of p‐ANCA+ patients progressing to systemic vasculitis (SV) within 12 months (OR 26.3, p < .0001 ...
Claudia Iannone   +11 more
wiley   +1 more source

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