Results 51 to 60 of about 313,476 (262)
FEBS Open Bio, EarlyView.CRISPRI‐mediated gene silencing and phenotypic exploration in nontuberculous mycobacteria. In this Research Protocol, we describe approaches to control, monitor, and quantitatively assess CRISPRI‐mediated gene silencing in M. smegmatis and M. abscessus model organisms.
Vanessa Point +7 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To delineate specific in vivo white matter pathology in neuronal intranuclear inclusion disease (NIID) using diffusion spectrum imaging (DSI) and define its clinical relevance. Methods DSI was performed on 42 NIID patients and 38 matched controls.
Kaiyan Jiang +10 more
wiley +1 more source
SYNOVIAL LESIONS OF THE SKIN [PDF]
Archives of Dermatology and Syphilology, 1921 Attention was first called to synovial lesions of the skin by Hyde1in 1883. More recently the subject has been discussed by Lingenfelter,2Ormsby,3and Sutton.4 Synovial lesions of the skin occur over the dorsal aspects of the interphalangeal, metacarpo-phalangeal and metatarso-phalangeal articulations.
openaire +2 more sources
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Sensors, 2020 Skin lesion classification is an effective approach aided by computer vision for the diagnosis of skin cancer. Though deep learning models presented advantages over traditional methods and brought tremendous breakthroughs, a precise diagnosis is still ...
Jing Wu +4 more
doaj +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Generative adversarial networks based skin lesion segmentation
Scientific Reports, 2023 Skin cancer is a serious condition that requires accurate diagnosis and treatment. One way to assist clinicians in this task is using computer-aided diagnosis tools that automatically segment skin lesions from dermoscopic images.
Shubham Innani +7 more
doaj +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Recurrent Hypothermia and Autonomic Dysfunction Secondary to Shapiro Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT A 44‐year‐old man presented with recurrent hypothermia, diaphoresis and hypertension. Extensive investigation for infectious, inflammatory, metabolic and endocrine aetiologies was negative. MR scan of the brain demonstrated no lesions but revealed callosal dysgenesis, consistent with Shapiro syndrome.
Naveen Kumar +3 more
wiley +1 more source
Revista Española de Sanidad Penitenciaria, 2022 Planelles-Ramos,Manuel Vicente +3 more
openaire +4 more sources