Results 201 to 210 of about 629,085 (265)

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

Cognitive-psychological mechanisms and decision-making in later life: the role of wealth perception capability. [PDF]

Front Psychol
He X, Zeng X, Jiang T.
europepmc   +1 more source

Assessment of acquired apraxia of speech: pilot study with the CBO protocol. [PDF]

Arq Neuropsiquiatr
Costa BM, Ortiz KZ.
europepmc   +1 more source

Association between internet use and private-sphere pro-environmental behavior among Chinese residents: an exploratory study from the perspective of ecological civilization construction. [PDF]

Front Public Health
Gao J, Liang X.
europepmc   +1 more source

Classification errors distort findings in automated speech processing: Examples and solutions from child-development research. [PDF]

Behav Res Methods
Gautheron L, Kidd E, Malko A, Lavechin M, Cristia A.   +4 more
europepmc   +1 more source

A general framework for extrapolation-aware prediction reliability in forward and inverse analyses of Gaussian mixture regression models. [PDF]

Anal Sci
Kaneko H.
europepmc   +1 more source

Construction and validation of nomogram model for high-risk early warning of medical complaints based on occupational characteristics and workload of medical staff. [PDF]

Front Public Health
Huang J, Gou T, Cui Y, Yang F, Zhang J.
europepmc   +1 more source

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LogitBoost with errors-in-variables

Computational Statistics & Data Analysis, 2008
zbMATH Open Web Interface contents unavailable due to conflicting licenses.
Joseph Sexton, Petter Laake
openaire   +2 more sources