Results 161 to 170 of about 2,588,152 (306)
Advanced Intelligent Systems, EarlyView.This review highlights recent advances in automated iPSC culture systems integrating robotics, advanced imaging, artificial intelligence, and process control. These technologies improve reproducibility, scalability, and quality in cell expansion, differentiation, and real‐time monitoring, while emerging AI‐enabled and closed‐loop approaches offer new ...
Hyoryong Lee +3 more
wiley +1 more source
Retinal Disease in Neurology [PDF]
Proceedings of the Royal Society of Medicine, 1965 openaire +4 more sources
AI‐Powered Smart Displays and AR Glasses: Perspectives and Challenges
Advanced Intelligent Systems, EarlyView.This perspective examines how AI is reshaping smart displays and AR glasses. The latest in image‐quality enhancement, sensor‐integrated display optimization, and physiological sensing in display systems, followed by AI‐assisted AR technologies including waveguide optimization, image compensation, foveated rendering, and multimodal sensing, is discussed.
Luke Benoit +8 more
wiley +1 more source
Ocular and Systemic Findings in COL2A1 and COL11A1 Stickler Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Stickler syndrome is most commonly caused by variants in COL2A1 and COL11A1 genes. The purpose of this study was to describe genetic variants and phenotypes in COL2A1 and COL11A1 Stickler syndrome. We performed a retrospective genotype–phenotype evaluation of COL2A1 and COL11A1 Stickler syndrome subjects. Thirty‐two subjects with COL2A1 and 13
Aileen G. MacLachlan +5 more
wiley +1 more source
An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula +8 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto +5 more
wiley +1 more source
Hepatology, EarlyView., 2022 Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid +20 more
wiley +1 more source
A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini +9 more
wiley +1 more source
Evaluating an AI-assisted triage workflow for retinal diseases. [PDF]
PLOS Digit HealthPark D, Oh R, Baek J, Bae K.
europepmc +1 more source
Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell +16 more
wiley +1 more source