Results 221 to 230 of about 309,470 (261)

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

Dynamic coherence windows: a multi-scale structural coherence measurement framework for AI systems. [PDF]

Front Artif Intell
St-Louis C.
europepmc   +1 more source

Identifying Co-occurring Neighbourhood Environmental Patterns and Their Association with Health Behaviours in a Dutch Urban Population at High Cardiometabolic Risk

Smit AK, Vos RC, Velde LAvd, Haas MR, Numans ME, Beenackers MA, Bonten TN, Jong JCK.   +7 more
europepmc   +1 more source

Conflicts hinder research into animal movements. [PDF]

Ambio
Martín-Vélez V, Navarro J, Afán I, Montalvo T, Green AJ.   +4 more
europepmc   +1 more source

Understanding the nature-wellbeing relationship in adults: a qualitative metasynthesis review.

Wellbeing Space Soc
van Bekkum JE, McDougall CW, Wendelboe-Nelson C, Mason SS, Williams AJ, Jepson R, Malden S.   +6 more
europepmc   +1 more source

Implementation of QbD Approach to the Analytical Method Development and Validation for the Estimation of Arformoterol Tartrate Inhalation Solution Dosage Form via RP-HPLC. [PDF]

ACS Omega
Alluri NR, Bandlamudi MR, Kuppusamy S, Morais SR.   +3 more
europepmc   +1 more source

Assessing European cities with the 3-30-300 rule underscores the need for enhanced urban greening efforts. [PDF]

Nat Commun
Bertassello LE, van der Velde M, Maes J, Liu S, Brandt M, Feyen L.   +5 more
europepmc   +1 more source

DTI-ALPS and subcortical structural-functional coupling mediate the impact of sleep quality on working memory in insomnia disorder. [PDF]

Psychol Med
Lv Z, Zhang H, Yang Y, Wei Y, Lei X.
europepmc   +1 more source

Effect of noise and green space exposure on depression, anxiety and stress among the Lebanese population. [PDF]

PLoS One
Youssef R, Dassuki N, El Natour D, Al Achcar J, Maadarani R, Krayker G, Azakir B, El Masri J, Salameh P.   +8 more
europepmc   +1 more source

ECOSYSTEM SERVICES OF URBAN GREEN SPACES AND THEIR IMPACT ON QUALITY OF LIFE

Scientific Papers of Silesian University of Technology. Organization and Management Series
openaire   +1 more source