Results 231 to 240 of about 1,542,707 (296)

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

A Review of the Expansion and Integration of Production Line Balancing Problems: From Core Issues to System Integration. [PDF]

Sensors (Basel)
Sitahong A, Lu Z, Yuan Y, Mo P, Ma J.
europepmc   +1 more source

A Systematic Comparison of Alpha‐Synuclein Seed Amplification Assays for Increasing Reproducibility

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Seed amplification assays (SAAs) enable ultrasensitive detection of misfolded α‐synuclein across biofluids and tissues. Yet, heterogeneity in protocols limits cross‐study comparability and clinical translation. Here, we review α‐synuclein SAA methods and their performance across various biological matrices.
Manuela Amaral‐do‐Nascimento, Daniela F. Santos, Tuane C. R. G. Vieira, Tiago F. Outeiro   +3 more
wiley   +1 more source

Healthcare workers' perspectives on burnout complaints: exploring underlying dynamics using a complex systems approach. [PDF]

BMC Health Serv Res
Heuven R, van den Berg S, Proper K, van Oostrom S.   +3 more
europepmc   +1 more source

Load balancing for cloud computing using optimized cluster based federated learning. [PDF]

Sci Rep
Chennam KK, V UM, Aluvalu R, Chinthaginjala R, Ab Wahab MN, Zhao X, Tolba A.   +6 more
europepmc   +1 more source

Balancing selection maintains intraspecific diversity in a deep-sea fish. [PDF]

Heredity (Edinb)
Hoelzel AR, Garza JC, Clemento A, Gkafas GA, Steeds N, Gaither M, Peachment H, Regnier T, Gibb F.   +8 more
europepmc   +1 more source

Balancing Loss of Physical Function in Older Adults’ Everyday Lives with Multimorbidity - a qualitative study

Østergaard K, Skou ST, Bricca A, Dideriksen M, Høgsgaard D, Simonÿ C.   +5 more
europepmc   +1 more source

Balancing selection of climate adaptive loci underlies the success of introduction of Eurasian Tree Sparrows. [PDF]

Sci Adv
Chen Y, Zhang S, Zang W, Ericson PGP, Claramunt S, Joseph L, Christidis L, Zhai W, Lei F, Qu Y.   +9 more
europepmc   +1 more source