Results 231 to 240 of about 3,988,164 (314)

Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy   +21 more
wiley   +1 more source

When Diagnosis Meets Reality: Operational Performance of Routine Malaria Diagnostics Against Molecular Evidence in Southwestern Saudi Arabia

open access: yesJournal of Tropical Medicine
Musa A. Ayashi   +9 more
doaj   +1 more source

1,2‐propanediol reformulation improves tribromoethanol safety and reveals pontine GABRA1 enrichment as a candidate mechanistic correlate of anesthesia

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li   +3 more
wiley   +1 more source

Genetic Resilience and Resistance in Alzheimer's Disease Diagnosis and Pathology

open access: yesAnnals of Neurology, EarlyView.
Objective Some individuals avoid Alzheimer's disease (AD) pathology as they age, or retain cognition despite substantial pathology, suggesting mechanisms of resistance or resilience to neurodegeneration. Educational attainment (EA) is associated with reduced risk of cognitive decline, although the underlying mechanisms remain unclear.
Ganna Leonenko   +8 more
wiley   +1 more source

Hepatic morphology and serum biochemical profile according to dry and rainy seasons in Pygocentrus nattereri (Characiformes: Serrasalmidae)

open access: yesThe Anatomical Record, EarlyView.
Abstract This study investigated the physiological and morphological adaptations of the liver of the carnivorous fish Pygocentrus nattereri (piranha) in response to seasonal variations (dry and rainy seasons) in the Brazilian Pantanal. The objective was to describe how the liver, a central organ in metabolic regulation, responds to environmental ...
Maria Eduarda Corona Garcia   +9 more
wiley   +1 more source

Serologic screening for viral infections among blood donors: a study in a blood bank in southern Brazil. [PDF]

open access: yesRev Assoc Med Bras (1992)
Belanda GS   +7 more
europepmc   +1 more source

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