Results 201 to 210 of about 87,262 (329)

A Novel UPF1 Variant Associated With a Rare UPF1 ‐Related Neurodevelopmental Disorder

open access: yesClinical Genetics, Volume 108, Issue 3, Page 313-317, September 2025.
Nonsense‐mediated mRNA decay (NMD) plays a crucial role in degrading aberrant transcripts with premature termination codons, and aberrant NMD has been linked to neurodevelopmental disorders (NDD). A key player of NMD is UPF1, which is a helicase. Including the current patient, only four individuals with NDD and UPF1 variants have been reported in the ...
Zeynep Tümer   +4 more
wiley   +1 more source

Hearing health outreach services to Indigenous children and young people in the Northern Territory 2012–13 and 2013–14 [PDF]

open access: yes
Presents analyses on hearing health outreach services provided to Indigenous children and young people in the Northern Territory. Summary This report presents information on ear and hearing outreach services funded by the Department of Health and ...
Australian Institute of Health and Welfare
core  

Speech Recognition for Pediatric Electric-Acoustic Stimulation Users with Unilateral Hearing Loss. [PDF]

open access: yesOtol Neurotol
O'Rourke SP   +5 more
europepmc   +1 more source

Rights, respect, and the duty to obey the law

open access: yes
Journal of Social Philosophy, EarlyView.
Shruta Swarup
wiley   +1 more source

The Usefulness of ETDQ‐7 Score in Assessing ETD

open access: yesClinical Otolaryngology, Volume 50, Issue 5, Page 840-847, September 2025.
ABSTRACT Introduction The ETDQ‐7 questionnaire has been validated for diagnosing Eustachian tube dysfunction (ETD) and a minimal clinically important difference (MCID) of > 3.5 has been suggested. We aim to assess the use of ETDQ‐7 for assessing ETD and a potential correlation between ETDQ‐7 and the Sino‐Nasal Outcome Test 22 (SNOT‐22). Methods ETD was
Niels Højvang Holm, Therese Ovesen
wiley   +1 more source

Hearing Outcomes in Children with Unilateral Hearing Loss. The Benefits of Rehabilitative Strategies: Preliminary Results. [PDF]

open access: yesAudiol Res
Malesci R   +7 more
europepmc   +1 more source

Multiple congenital anomalies and adverse developmental outcomes are associated with neonatal intensive care admission and unilateral hearing loss. [PDF]

open access: yesFront Pediatr, 2022
Horrocks LM   +6 more
europepmc   +1 more source

Stepparenting and Moral Parenthood

open access: yes
Journal of Social Philosophy, EarlyView.
Luara Ferracioli
wiley   +1 more source

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