Results 171 to 180 of about 7,764,022 (255)

L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTO1 is a nuclear gene that encodes a mitochondrial protein essential for modifying mitochondrial transfer RNAs (tRNAs) and stabilizing codon‐anticodon interactions to ensure accurate and efficient mitochondrial protein synthesis and oxidative phosphorylation.
Nishitha R. Pillai   +5 more
wiley   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno   +8 more
wiley   +1 more source

The Legislation for Providing Animal Access in Australian Residential Aged Care: It's Not a Zoo

open access: yesAustralian Journal of Social Issues, EarlyView.
ABSTRACT Providing meaningful animal contact to residential aged care facility (RACF) residents is problematic due to a lack of animal policies and National Guidelines. This paper examines how Australian Legislation could influence access to animal contact in RACFs and aims to answer the question, ‘Could current Legislation facilitate the development ...
Wendy Newton   +2 more
wiley   +1 more source

Risk Factors for <i>Candidozyma auris</i> Among Admitted Patients in Riyadh, Saudi Arabia (2020-2022). [PDF]

open access: yesInfect Drug Resist
Alshahrani FS   +13 more
europepmc   +1 more source

Early Endoscopic Repair of Traumatic Skull Base Dural Injuries: Challenging the Dogma of Conservative Management

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Introduction Traditional management of traumatic skull base dural injury has often favored observation and conservative therapy, despite the risk of delayed intracranial complications. This paradigm originated when operative intervention required craniotomy and carried significant morbidity.
Jessica W. Grayson   +9 more
wiley   +1 more source

Effects of an Inpatient Program on Medication Errors in Hospitalized People with Parkinson's Disease

open access: yesAnnals of Neurology, EarlyView.
Objective Hospitalized people with Parkinson's disease (PwP) face increased risks of medication errors and discharge to non‐home settings, both of which are associated with adverse outcomes. This study assessed differences in medication error rates and discharge outcomes before and after implementation of a dedicated inpatient program for hospitalized ...
Camila C. Piccinin   +15 more
wiley   +1 more source

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