Results 241 to 250 of about 10,600,838 (308)

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

Development of a high-precision evaluation system for radial pulse wave applanation tonometry devices. [PDF]

Sci Rep
Jun MH, Choy S, Kim YM.
europepmc   +1 more source

Single dynamic structured light navigation for minimally invasive cervical pedicle screw insertion: Achieving complex design and precise puncture. [PDF]

PLoS One
Chen X, Huang X, Zhang G, Li K, Liu Q, He Z, Xu W.   +6 more
europepmc   +1 more source

YOLO-MDEW:Improved YOLOv8 for application of wood board edge banding defect detection. [PDF]

PLoS One
Xiao E, Zhou R, Ruan Z, Chien CJT, Zhu J.   +4 more
europepmc   +1 more source

Gastrointestinal Interoception and Relapse in Anorexia Nervosa.

JAMA Psychiatry
Verdonk C, Mink K, Choquette E, Moseman SE, Mayeli A, Stewart JL, Paulus MP, Smith R, Khalsa SS.   +8 more
europepmc   +1 more source

A robotic goniometer exchanger for high-throughput single-crystal X-ray diffraction at SPring-8. [PDF]

J Synchrotron Radiat
Nakamura Y, Maity SR, Sasaki T, Ichiyanagi K.   +3 more
europepmc   +1 more source

Proprioceptive judgements made with the hand and the jaw: two distinct but functionally related body parts. [PDF]

Sci Rep
Robertson LS, Butler AA, Fisher G, Gandevia SC, Héroux ME.   +4 more
europepmc   +1 more source

Study on a high precision alignment system with dual cameras. [PDF]

PLoS One
Liu CC, Fang CC, Liu CS.
europepmc   +1 more source