Results 201 to 210 of about 1,597,445 (261)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

open access: yesAnnals 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   +21 more
wiley   +1 more source

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

open access: yesAnnals 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   +23 more
wiley   +1 more source

Pan-genome analysis of Ralstonia pseudosolanacearum associated with tobacco bacterial wilt in China. [PDF]

open access: yesBMC Microbiol
Kang J   +9 more
europepmc   +1 more source

Whole-Genome Analysis and Lignin Degradation Characterization of Termite-Derived Bacillus cereus BC-8. [PDF]

open access: yesMicroorganisms
Zhang X   +8 more
europepmc   +1 more source

Whole-genome analysis reveals genetic diversity and selection pressure in Sichuan donkey. [PDF]

open access: yesBMC Genomics
Li C   +7 more
europepmc   +1 more source

Correction: Complete genome analysis reveals evolutionary history and temporal dynamics of Marek's disease virus. [PDF]

open access: yesFront Microbiol
Li K   +10 more
europepmc   +1 more source

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