Results 261 to 270 of about 9,725,589 (384)

Cellular therapies in rheumatic and musculoskeletal diseases. [PDF]

open access: yesJ Transl Autoimmun
Franco-Fuquen P   +8 more
europepmc   +1 more source

044 Eosinophilic fasciitis, an important musculoskeletal manifestation of haematological disease [PDF]

open access: bronze, 2018
Inês Fernandes Soares   +2 more
openalex   +1 more source

Self‐Healing Materials from Electronically Integrated Microscopic Robots

open access: yesAdvanced Intelligent Systems, EarlyView.
Submillimeter robots can use electronically controlled electrodeposition to assemble into a material structure. The resulting aggregate possesses ultralow density, high strength‐to‐weight ratio, and can heal from damage. Further afield, these results clear a path to materials that organize or adapt by directing matter and information at the microscale.
Lucas C. Hanson   +2 more
wiley   +1 more source

The EULAR points to consider for health professionals undertaking musculoskeletal ultrasound for rheumatic and musculoskeletal diseases [PDF]

open access: bronze, 2018
Heidi J. Siddle   +18 more
openalex   +1 more source

The HRAS Variant c.175G>A (p.Ala59Thr) Causes a Predominantly Ectodermal Phenotype Lacking Classic Costello Syndrome Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen   +10 more
wiley   +1 more source

GATA3 Deletion Associated With Juvenile Idiopathic Arthritis: Expanding the Phenotypic Spectrum of Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia (HDR) Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss   +8 more
wiley   +1 more source

Syndrome of the Month: An Update on Smith‐Kingsmore Syndrome: Characterization of Developmental Milestones and a Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Smith‐Kingsmore syndrome (SKS) is a rare autosomal dominant condition characterized by neurodevelopmental differences, macrocephaly/megalencephaly, describable facial features, sleep–wake abnormalities, hyperphagia, and overgrowth. SKS is caused by pathogenic gain‐of‐function variants in MTOR which lead to hyperactivation of the mTOR pathway ...
Carolyn R. Raski, Carlos E. Prada
wiley   +1 more source

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