RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
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
ABSTRACT Background Cognitive impairment is a common non‐motor symptom in Multiple Sclerosis (MS), negatively affecting autonomy and Quality of Life (QoL). Innovative rehabilitation strategies, such as semi‐immersive virtual reality (VR) and computerized cognitive training (CCT), may offer advantages over traditional cognitive rehabilitation (TCR ...
Maria Grazia Maggio +8 more
wiley +1 more source
Ultrafast single-qubit gates through multi-photon transition removal. [PDF]
Gao Y +14 more
europepmc +1 more source
Artificial Intelligence for Automated Continuous Quantification of Left Ventricular Ejection Fraction From Standard Adult Transthoracic Echocardiography: A Systematic Review. [PDF]
Dembi A +3 more
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A Non-SOGI Single-Phase Frequency-Locked Loop Based on Synchronous Frequency Tracking Filter with Enhanced Immunity to Sensor-Induced DC Offsets. [PDF]
Sevilmiş F.
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Metrological Set-Up and Procedure for Calibration of Displacement Transducers. [PDF]
Čas L, Ačko B, Klobučar R.
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Correction: Rath et al. (2025). Does the Forensic Filler-Control Method Reduce Examiner Overconfidence? An Experimental Investigation Using Mock Fingerprint Examiners. <i>Behavioral Sciences</i>, <i>15</i>(9), 1191. [PDF]
Rath HJ, Rocha B, Smith AM, Smalarz L.
europepmc +1 more source
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