L‐Cysteine and N‐Acetylcysteine Supplementation Improves Clinical Outcome in a Patient With COXPD10
American 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
Temporal Analysis of Patient-Centered Sentiment in Clinical Notes for Patients With Mental Health Conditions: Retrospective Cohort Study. [PDF]
J Med Internet ResMorsy A, Peters CJ, Miller L, Zirikly A.
europepmc +1 more source
Systematic Review of Females With Intellectual Disability and MECP2 Duplication
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik +10 more
wiley +1 more source
A dataset for studying the vocabulary of picturebooks: A supplement to the children's picturebook lexicon (CPB-Lex). [PDF]
Data BriefGreen C, Keogh K.
europepmc +1 more source
Maternal Factors Modifying the Link Between Genetic Risk for Autism and Developmental Milestones
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Although common genetic liability—quantified through polygenic risk scores (PRS)—accounts for substantial variance in autism spectrum disorder (ASD) liability, how prenatal environmental exposures interact with genetic predisposition to shape developmental outcomes remains poorly understood. Using the data from Autism Genetic Resource Exchange
Liliana D'Alesio +4 more
wiley +1 more source
Long-Term Ocular and Neurodevelopmental Outcomes of Retinopathy of Prematurity: A Bibliometric and Thematic Evolution Analysis. [PDF]
Turk J OphthalmolKarataş E +3 more
europepmc +1 more source
A. Alison, Bachelard, “International Lexicon of Aesthetics”, Vol. 4, Milano, Mimesis, 2021.
, 2021 Bachelard +5 more
core +1 more source
Australian Journal of Social Issues, EarlyView.ABSTRACT This article presents the development of a five‐phase Indigenous Data Governance (IDGov) Framework in Australia, focusing on partnerships between the Aboriginal Community Controlled Health Organisation (ACCHO) sector and non‐Indigenous health entities.
Jacob Prehn +4 more
wiley +1 more source