Results 221 to 230 of about 19,191,137 (252)

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

Improving national alignment to mark 50 years of WHO's essential medicines lists. [PDF]

Bull World Health Organ
Moja L, Cappello B, Mubangizi D.
europepmc   +1 more source

Metacognitive Milestones: A Longitudinal View of How Life Science Students Develop Metacognition Across Their College Years. [PDF]

CBE Life Sci Educ
Bremers EK, Clark N, Halmo SM, Reece B, Aina T, Carter RJ, Nafea G, Stanton JD.   +7 more
europepmc   +1 more source

How to stop Canada's emergency physicians from leaving their profession. [PDF]

CMAJ
Varner C.
europepmc   +1 more source

Embracing complexity: An opportunity for developmental evaluation. [PDF]

J Clin Transl Sci
Biroscak BJ, Hovmand PS.
europepmc   +1 more source

Analyzing state dyslexia legislation through the lens of oral language: an exploratory study. [PDF]

Ann Dyslexia
Georgan WC.
europepmc   +1 more source

Underinvesting in prevention: the costly blind spot in US diabetes care. [PDF]

Health Aff Sch
Han PY.
europepmc   +1 more source