Results 61 to 70 of about 53,594 (285)

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

Workspace Analysis of Hydraulic Follow-up Arm based on Monte Carlo Method

Jixie chuandong, 2022
Taking the hydraulic follow-up arm of a company as the research object， an improved D-H coordinate system is established， and a 3D workspace of the end-effector of the hydraulic follow-up arm is solved by the forward kinematics equation.
Pengyun Feng, Liangbin Zhan, Yanping Xiao, Tiancheng Huang   +3 more
doaj  

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

The effect of distance between point light source and target metal to stopping potential [PDF]

, 2014
The research question of the experiment is “In a photoelectric system , what is the effect of distance between tungsten lamp and the metal photoelectric module on the stopping potential of system and how does the effect vary with changing wavelength of ...
Akay, Ertuğrul
core  

Influence of Longitudinal Train Dynamics on Friction Buffer Stop Performances

Dynamics
Buffer stops have always been installed on blind tracks to mitigate the hazards associated with overruns due to insufficient or wrong braking. Conventional buffer stops fixed to the rails may absorb only limited energy while Energy-Absorbing Buffers ...
Gianluca Megna, Luciano Cantone, Andrea Bracciali   +2 more
doaj   +1 more source

Evaluation of Digital Technologies for Home‐Based Assessment in People With Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Digital technologies hold promise for transforming healthcare by enhancing personalized treatments and offer valuable opportunities to improve patient care. Here, we evaluated several novel, self‐administered, home‐based, digital endpoints for their association with corresponding conventional standard clinical measures (primary) in ...
Arne Mueller, Vanessa Vallejo, Mónica Povedano Panadés, Orla Hardiman, Véronique Danel‐Brunaud, Senda Ajroud‐Driss, Philippe Couratier, Jeremy Shefner, Anna Gokey, Mike DiCesare, Erin Lennox, Jens Praestgaard, Lucie Brujin, Peggy Allred, Ram Miller   +14 more
wiley   +1 more source

Handbook of Simplified Practice for Traffic Studies; TR-455, November 2002 [PDF]

, 2002
The Iowa Highway Research Board has identified the development of a simplified handbook of transportation studies as a high priority for the state of Iowa.

core  

Experimental Determination of Bicycles and Electric Bicycle Stopping Distance

Engineering Proceedings
This work presents the results of an experimental study of the braking properties of bicycles and an e-bicycle. Data on braking decelerations and braking distance under different braking conditions were obtained for different bicycles including an e ...
Daniel Lyubenov, Seher Kadirova, Georgi Kadikyanov, Zhivko Kolev, Dzhemal Topchu   +4 more
doaj   +1 more source

Modeling Drivers’ Stopping Behaviors during Yellow Intervals at Intersections considering Group Heterogeneity

Journal of Advanced Transportation, 2020
Stopping behavior during yellow intervals is one of the critical driver behaviors correlated with intersection safety. As the main index of stopping behavior, stopping time is typically described by Accelerated Failure Time (AFT) model.
Juan Li, Hui Zhang, Yanru Zhang, Xuan Zhang   +3 more
doaj   +1 more source

Mechanochemical Synthesis and Characterization of Nanostructured ErB4 and NdB4 Rare‐Earth Tetraborides

Advanced Engineering Materials, Volume 27, Issue 6, March 2025.
ErB4 and NdB4 nanostructured powders are produced by mechanochemical synthesis. 5 h mechanical alloying and 4 M HCl acid leaching are used in the production. ErB4 and NdB4 powders exhibit maximum magnetization of 0.4726 emu g−1 accompanied with an antiferromagnetic‐to‐paramagnetic phase transition at about TN = 18 K and 0.132 emu g−1 with a maximum at ...
Burçak Boztemur, Faruk Kaya, Bora Derin, Mustafa Lütfi Öveçoğlu, Ju Li, Duygu Ağaoğulları   +5 more
wiley   +1 more source