Results 131 to 140 of about 326,212 (268)

Xstainer: A Novel Virtual Staining Tool Powered by Advanced Deep Learning Techniques

open access: yesAdvanced Intelligent Systems, EarlyView.
Xstainer is a deep learning–based virtual staining framework that converts hematoxylin and eosin‐stained whole slide images into multiple histochemical stains, including Masson's trichrome, Periodic acid‐Schiff, Jones methenamine silver, and Toluidine blue.
Fatma Nur Kinali   +15 more
wiley   +1 more source

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao   +122 more
wiley   +1 more source

Genotype–Phenotype Correlations of Monoallelic PFIC Variants in Pediatric Liver Disease: A Multicenter Retrospective Cohort Study

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Progressive familial intrahepatic cholestasis (PFIC) is classically caused by biallelic pathogenic variants, yet monoallelic variants of uncertain significance (VUS) in PFIC‐associated genes are increasingly identified in children with cholestasis, creating diagnostic uncertainty.
Brett J. Hoskins   +9 more
wiley   +1 more source

Histopathology of Deafness

open access: yesEar, Nose & Throat Journal, 1992
A J, Gulya, N R, Juhlin
openaire   +2 more sources

Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR‐F508del Rabbit Model

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) is a heterogeneous inflammatory disorder frequently associated with impaired mucociliary clearance and bacterial infection. Individuals carrying a single cystic fibrosis transmembrane conductance regulator (CFTR) mutation exhibit partial CFTR dysfunction and are increasingly recognized as being at risk ...
Do‐Yeon Cho   +9 more
wiley   +1 more source

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