Results 241 to 250 of about 4,305,606 (328)

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

Dedicated Single-Branch Platforms for Totally Endovascular Zone 2 TEVAR with LSA Revascularization: A Comparison of Castor/Cratos and Gore TAG Thoracic Branch Endoprosthesis. [PDF]

J Clin Med
Marzano A, Gagliardo di Carpinello G, Giordano A, Cangiano R, Ascione M, Miceli F, Di Girolamo A, Bittoni C, Pacillo M, di Marzo L, Mansour W.   +10 more
europepmc   +1 more source

Next-Generation SGLT2 Inhibitors: Innovations and Clinical Perspectives. [PDF]

Biomedicines
Movila D, Seiman DD, Dragan SR.
europepmc   +1 more source

First-in-Human Use of a Novel Dual-Mechanism Transcatheter Tricuspid Repair Device. [PDF]

JACC Case Rep
Nejjari M, Dreyfus J, Leroux L, Modine T, Granada JF.   +4 more
europepmc   +1 more source

Comparative outcomes of on-label and off-label transcatheter aortic valve replacement for aortic regurgitation: a systematic review and meta-analysis. [PDF]

Open Heart
Peng Y, Lin Y, Su Z, Nie S, Nie R, Chen Y.   +5 more
europepmc   +1 more source

VitiForge: a new procedural pipeline approach for grapevine disease identification under data scarcity. [PDF]

Front Plant Sci
Farinati Leite E, Brizola Fontoura L, de Freitas A, Disconzi Dallegrave G, Volpe de Freitas R, Mello VS, Valiati JF.   +6 more
europepmc   +1 more source

Minimizing Permanent Pacemaker Implantation After TAVR: Current Strategies, Monitoring Pathways, and Future Directions. [PDF]

J Clin Med
Reyes Mitre A, de la Garza HL, Guerreiro CE, Medina DO, Avila Gil EM, Salvadores PJ, Baz Alonso JA, Romo AI, Jimenez Diaz VA.   +8 more
europepmc   +1 more source

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“Generator’s Haunted”: A Brief, Spooky Account of Hauntological Effects in the Player Experience of Procedural Generation

International Conference on Foundations of Digital Games, 2023
Theories of the poetics of procedural generation attempt to explain the player experience of interacting with generators by describing the aesthetic or experiential qualities that generators can afford when they are deployed in particular ways.
Max Kreminski
semanticscholar   +1 more source