Results 191 to 200 of about 132,694 (348)

The Value of Pre-Scheduled Bone Scintigraphies in Breast Cancer [PDF]

open access: bronze, 1988
Henrik S. Thomsen   +3 more
openalex   +1 more source

The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.
ABSTRACT Dermatosparaxis Ehlers Danlos syndrome (dEDS) is a very rare monogenic EDS that occurs due to biallelic pathogenic variants in ADAMTS2. Fifteen individuals with dEDS have been reported in the literature, with the oldest being 19 years at follow‐up.
C. Angwin   +8 more
wiley   +1 more source

The Utility of Long‐Read Sequencing in Diagnosing Early Onset Parkinson's Disease

open access: yesAnnals of Neurology, Volume 97, Issue 4, Page 753-765, April 2025.
Objective Variants in PRKN and PINK1 are the leading cause of early‐onset autosomal recessive Parkinson's disease, yet many cases remain genetically unresolved. We previously identified a 7 megabases complex structural variant in a pair of monozygotic twins using Oxford Nanopore Technologies (ONT) long‐read sequencing.
Kensuke Daida   +16 more
wiley   +1 more source

Exploring Cardiac Sympathetic Denervation in Transthyretin-Mediated Hereditary Amyloidosis (ATTRv): Insights from 123I-mIBG Scintigraphy. [PDF]

open access: yesDiagnostics (Basel)
Feo MS   +19 more
europepmc   +1 more source

Current and potential methods to assess kidney structure and morphology in term and preterm neonates

open access: yesThe Anatomical Record, Volume 308, Issue 4, Page 1229-1250, April 2025.
Abstract After birth, the kidney structure in neonates adapt to the functional demands of extrauterine life. Nephrogenesis is complete in the third trimester, but glomeruli, tubuli, and vasculature mature with the rapidly increasing renal blood flow and glomerular filtration. In preterm infants, nephrogenesis remains incomplete and maturation is slower
Eveline Staub
wiley   +1 more source

An Evaluation of 99mTc-Labeled Red Blood Cell Scintigraphy for the Detection and Localization of Gastrointestinal Bleeding Sites

open access: bronze, 1982
John A. Markísz   +5 more
openalex   +1 more source

99m Tc-Sucralfate scintigraphy and colonic disease [PDF]

open access: green, 1987
J. Gary Wheeler   +2 more
openalex   +1 more source

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