Results 221 to 230 of about 714,481 (251)

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, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Zero echo time MRI with deep learning reconstruction and chemical shift correction for detecting osteolytic myeloma lesions. [PDF]

Eur Radiol Exp
Lepot D, Chabot C, Duchêne G, Mandava S, Fung M, Poujol J, Vekemans MC, Triqueneaux P, Watté N, Gheysens O, Michoux N, Lecouvet FE.   +11 more
europepmc   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Truth-based physics informed estimation of material composition in spectral CT in terms of density and effective atomic number. [PDF]

Phys Med Biol
Valand JH, Zarei M, Rajagopal J, Felice N, Cao JY, Magudia K, Kruse DE, Kalisz KR, Abadi E, Samei E.   +9 more
europepmc   +1 more source

Evaluation of an automated reader for disc diffusion antimicrobial susceptibility testing in a routine microbiology laboratory. [PDF]

PLoS One
Orlandi Barth P, Cortez Pinzas X, Torrescasana Teixeira V, Lutz L, Collioni Constante C, Rodriguez Tondin B, Frotta Müller A, Pereira da Silva Junior D, Stefani Sanches PR, Barth AL.   +9 more
europepmc   +1 more source

Evaluating an AI-driven Triaging Workflow for MRI-based Clinically Significant Prostate Cancer Diagnosis: A Simulation Study. [PDF]

Radiol Imaging Cancer
Twilt JJ, Saha A, Bosma JS, Giannarini G, Padhani AR, Yakar D, Elschot M, Veltman J, Fütterer J, Huisman H, de Rooij M, PI-CAI Consortium.   +11 more
europepmc   +1 more source

A Novel Monoclonal Antibody Targeting the A29 Protein of Monkeypox Virus and Its Application in Immunoassay. [PDF]

Antibodies (Basel)
Jia N, Wang W, Zhao G, Meng D, Zheng L, Dong J.   +5 more
europepmc   +1 more source

Impact of partial volume correction on radiomics reproducibility in theranostic SPECT/CT imaging. [PDF]

Med Phys
Azimi MS, Cheraghi M, Ghodsi Rad MA, Bayat M, Alhashim M, Dadgar H, Alabedi M, Ibrahim N, Alwuhaib E, Arabi H, Rahmim A, Zaidi H.   +11 more
europepmc   +1 more source

RFID Technology for Intraoperative Localisation of Small Colorectal Tumours: Electromagnetic Analysis and Experimental Validation. [PDF]

Diagnostics (Basel)
Mocan B, Mocan M, Fulea M, Murar M, Mate Z, Calborean A, Bintintan VV.   +6 more
europepmc   +1 more source