Results 191 to 200 of about 15,700 (254)

Human Platelets in Intravenous Fluids Probed by Raman Tweezers Spectroscopy. [PDF]

open access: yesAnal Chem
Nelliat M   +5 more
europepmc   +1 more source

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC‐Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses with biallelic pathogenic RNU4ATAC variants linked to microcephalic osteodysplastic primordial dwarfism type I (MOPD1). Methods This retrospective case series includes five prenatal cases with MOPD1.
Alexandra Liebmann   +8 more
wiley   +1 more source

Hydroelectrolytic syndromes in neuroanesthesia and neurocritical care. [PDF]

open access: yesWorld J Crit Care Med
Mejia Herrera F, Marino L, Bilotta F.
europepmc   +1 more source

Monogenic and syndromic obesity in children: Clinical recognition, genetics, and precision management

open access: yesPediatric Investigation, EarlyView.
Monogenic and syndromic obesity in children often arises from defects in the leptin–melanocortin pathway. Understanding these rare genetic causes not only clarifies mechanisms of appetite regulation but also enables precision therapies, offering hope beyond lifestyle interventions.
Hadel Khalil   +2 more
wiley   +1 more source

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