Results 161 to 170 of about 3,196,136 (280)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2350-2356, October 2026.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

On the importance of including both sexes in animal studies – insights from home‐cage monitoring

open access: yesBiological Reviews, Volume 101, Issue 5, Page 2408-2426, October 2026.
ABSTRACT A review of behavioural studies using home‐cage monitoring (HCM) systems revealed that over 61% of studies used only male subjects, with only 24% including both sexes, despite evidence of substantial behavioural differences between male and female animals. This bias could influence the outcomes of biomedical research.
Maša Čater   +12 more
wiley   +1 more source

Neuroprotective Role of DING protein in Fetal Alcohol Spectrum Disorders and Depression. [PDF]

open access: yesObstet Gynecol Res
Darbinian N   +11 more
europepmc   +1 more source

The National Health and Medical Research Council Research Impact Indicators: Unveiling Omissions and Blind Spots, and Positioning for Change

open access: yesHealth Promotion Journal of Australia, Volume 37, Issue 4, October 2026.
ABSTRACT Issue Addressed This study assesses how the concept of (health) research impact has been operationalised in National Health and Medical Research Council (NHMRC) Impact Case Studies, and if and how lived experience research priorities have been considered, to ascertain implications for Australian health and medical research.
Nizam Abdu   +6 more
wiley   +1 more source

Drug Alcohol Depend

open access: yes
Background:Fetal alcohol spectrum disorders (FASDs) are lifelong conditions that can occur in a person with prenatal alcohol exposure. Although studies using intensive, in-person assessments of children in selected communities have found higher estimates

core  

Families Moving Forward Connect mHealth Intervention for Caregivers of Children With Fetal Alcohol Spectrum Disorders: Randomized Controlled Trial. [PDF]

open access: yesJMIR Mhealth Uhealth
Petrenko CLM   +8 more
europepmc   +1 more source

Editorial: Perspectives and recent advances in Fetal Alcohol Spectrum Disorders research. [PDF]

open access: yesFront Neurosci, 2023
Akison LK   +4 more
europepmc   +1 more source

Home - About - Disclaimer - Privacy