RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
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 +21 more
wiley +1 more source
Exact noise influenced soliton solutions of a high-order stochastic nonlinear Schrödinger equation with weak nonlocal nonlinearity in a non-Kerr medium. [PDF]
Ali MH +5 more
europepmc +1 more source
Exact Response Theory for Delay Equations. [PDF]
Gollinucci F, Ortu E, Rondoni L.
europepmc +1 more source
Homogenised balance equations for nematic liquid crystal flow in elastic porous media. [PDF]
Alwady M, Mottram NJ, Penta R.
europepmc +1 more source
Linear stability and dispersive soliton propagation in nonlinear media subject to parabolic phase modulation. [PDF]
Morgan M, Ahmed HM, Sayed M, Soliman M.
europepmc +1 more source
Transient Flow model and heterogeneity effect analysis for fracture networks in shale gas horizontal wells. [PDF]
Xiong W, Li Y, Guo W, Yuan H, Tang Z.
europepmc +1 more source
Infection dynamics for fluctuating infection or removal rates regarding the number of infected and susceptible individuals. [PDF]
Park SJ, Jeong SG, Choi MY.
europepmc +1 more source
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