Results 221 to 230 of about 4,884,947 (262)

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

"I've Never Really Thought about This…" - The Complexity of Patient Involvement in Education from the Teachers' Point of View. [PDF]

Perspect Med Educ
Schriwer E, Elmberger A, Sondén A, Stenfors T.   +3 more
europepmc   +1 more source

High‐Resolution MRI Revealed Different Etiology‐Specific Associations With Cerebral Infarction in Adult Moyamoya Vasculopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective High‐resolution MRI enables detailed assessment of intracranial vessel wall pathology in moyamoya vasculopathy. We aimed to classify adult moyamoya vasculopathy etiologies using high‐resolution MRI and to examine subtype‐specific associations between high‐resolution MRI features and ischemic infarction.
Guangsong Han, Jiachun Pan, Yuehui Hong, Xiaoyuan Fan, Ming Yao, Lixin Zhou, Yicheng Zhu, Feng Feng, Jun Ni   +8 more
wiley   +1 more source

Microvesicles, exosomes and their combinations with cytoplasmic organelles: from their discovery to their innovative roles in clinical medicine. [PDF]

Biol Direct
Meldolesi J.
europepmc   +1 more source

Exact Solution and Large-Scale Scaling Analysis of the Imaginary Creutz-Stark Ladder. [PDF]

Entropy (Basel)
Qi Y, Lin H, Lu Q, Long D, Ruan D, Long GL.   +5 more
europepmc   +1 more source

Multistability, Chaos, and Control in the Deterministic and Stochastic Dynamics of Noise-Driven Nonlinear Oscillators. [PDF]

Entropy (Basel)
Jhangeer A, Abdelkader A.
europepmc   +1 more source

Computational analysis of umami and bitter taste interactions: orthogonality in receptor-ligand binding. [PDF]

RSC Adv
Shityakov S, Afolabi SO, Ashikhmina MS, Skorb EV, Nosonovsky M.   +4 more
europepmc   +1 more source

On Real Hypersurfaces in a Complex Space Form

On Real Hypersurfaces in a Complex Space Form
openaire