Results 131 to 140 of about 157,437 (301)

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas   +7 more
wiley   +1 more source

The Clinical Utility of Sequence‐Based Genetic Testing for Fetal Edema Following Non‐Diagnostic Microarray Results: A Population‐Based Cohort Study

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective Ultrasound findings of fetal edema may provide early evidence of a genetic disorder. Our objective was to evaluate the frequency and diagnostic yield of sequencing in a selected population after a non‐diagnostic microarray result for fetal edema.
Victoria M. Allen   +5 more
wiley   +1 more source

Digitalising biodiversity: Exploring perceptions on risks and opportunities

open access: yesPLANTS, PEOPLE, PLANET, EarlyView.
Digitalisation is transforming biodiversity conservation, offering new opportunities for research, governance and public engagement. Herbarium digitisation, for example, enables large‐scale access to plant data, supporting conservation, restoration and sustainable use.
Björn‐Ola Linnér   +9 more
wiley   +1 more source

Characterising Patient Pathways Prior to the Diagnosis of Interstitial Lung Disease

open access: yesRespirology, EarlyView.
ABSTRACT Background and Objective Interstitial lung diseases (ILDs) lead to breathlessness, cough, deteriorating quality of life and early death. Patients are typically diagnosed late in their disease course when existing lung damage cannot be reversed.
Caitlin C. Fermoyle   +11 more
wiley   +1 more source

Correction: RNA-binding protein RPS7 promotes hepatocellular carcinoma progression via LOXL2-dependent activation of ITGB1/FAK/SRC signaling

open access: yesJournal of Experimental & Clinical Cancer Research
Yu-Jiao Zhou   +8 more
doaj   +1 more source

Peripheral cyclical expression of GABA-A receptor subunit genes and menstrual cycle affective change: a dimensional, transdiagnostic study. [PDF]

open access: yesTransl Psychiatry
Barone JC   +10 more
europepmc   +1 more source

Transformative Pathways for Strengthening Climate‐Resilient Health Systems Among Indigenous Communities: Advancing Equity and Sustainability in Global Health

open access: yesSustainable Development, EarlyView.
ABSTRACT Most climate‐resilience health interventions are designed at the global level, with minimal attention to Indigenous communities' needs. The lack of consideration can lead to unintended harm and exacerbate health risks. This study aims to identify the capacities of Indigenous communities that can serve as transformative pathways in safely ...
Chrishma D. Perera   +17 more
wiley   +1 more source

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