Results 201 to 210 of about 156,828 (341)

Phenotypic Expansion of Knobloch Syndrome Type 2 in an Individual With a De Novo PAK2 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT P21‐activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants cause Knobloch syndrome type 2 (KNO2)—a developmental disorder primarily characterized by ocular anomalies ...
Elizabeth A. Werren   +10 more
wiley   +1 more source

Adverse Cardiovascular Risk Profile and Increased Diurnal Salivary Cortisol in Girls With Turner Syndrome: An Exploratory Study

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Patients with Turner Syndrome (TS) and those exposed to high concentrations of glucocorticoids have a number of characteristics in common, including an increased risk of cardiovascular disease. Pediatric TS patients underwent studies of salivary cortisol (SC) and cortisone (SCn), body composition, continuous glucose monitoring, vascular ...
Lily Jones   +6 more
wiley   +1 more source

Description of unilateral kidney embolism and contralateral nephrectomy as a less invasive remnant kidney model in cats; a proof‐of‐concept study

open access: yesAnimal Models and Experimental Medicine, EarlyView.
Unilateral, minimally invasive, renal arterial embolization and delayed contralateral nephrectomy was described in cats as a novel remnant kidney model of chronic kidney disease using two doses of embolic particles. Renal function declined and characteristic histopathological markers of kidney disease were present 6 months after the embolism procedure.
Chad W. Schmiedt   +7 more
wiley   +1 more source

Mitral autograft for partial tricuspid valve replacement: a case report. [PDF]

open access: yesJ Surg Case Rep
El Mourabit Y   +4 more
europepmc   +1 more source

Heart valve replacement with reinforced aortic heterografts

open access: bronze, 1968
Marian I. Ionescu   +6 more
openalex   +1 more source

An Overview of Microfluidic‐Assisted Strategies for Synthesis and Applications of Molecularly Imprinted Polymers

open access: yesAnalysis &Sensing, EarlyView.
Sensor design increasingly focusses on miniaturized systems deployed directly at the point of need. For this purpose, microfluidics ensures low‐cost systems that can handle small sample volumes and molecularly imprinted polymers provide rugged, cost‐effective recognition.
Ramya Karunakaran   +4 more
wiley   +1 more source

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