Results 241 to 250 of about 5,497,042 (305)

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

Quality control and non-clinical testing of iPSC- and ESC-derived medicinal products: A systematic review. [PDF]

Stem Cell Reports
Gasiūnaitė A, Tihaya M, van Amerongen-Westra I, Lin F, Gurung P, Rajaei B, de Koning E, Carlotti F, Meij P.   +8 more
europepmc   +1 more source

Predictive Ability of Plasma p‐tau217 for β‐Amyloid Status: A Prospective Multicenter Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma tau phosphorylated at threonine 217 (p‐tau217) measured with fully automated platforms has shown high accuracy for Alzheimer's disease (AD) diagnosis, but real‐world multicenter data remain limited. We aimed to validate the diagnostic performance of p‐tau217 for identifying AD pathology in a real‐world multicenter cohort ...
Miquel Massons, Nuria Guillen, Jordi Sarto, Neus Falgàs, Sergi Borrego‐Écija, Diana Esteller‐Gauxax, Magda Castellví, Adrià Tort‐Merino, Agnès Pérez‐Millan, Anna Antonell, Josep M. Augè Fradera, Gerard Piñol, Iolanda Riba, Anna Carnes‐Vendrell, Marta Cullell, Maria Teresa Osuna, Lorena Bajo, Teresa Romero, Eva Bonjoch, Joan Bello, Susana Fernández, Marta Balagué, Isabel Gómez‐Ruiz, Anuncia Boltes, Claustre Pont, Raquel Cuevas, Sara Carrillo, Laura Iglesias, Teresa Maria Casadevall Codina, Lorena Grau Guinea, Fernando Jose Espada, Raquel Sánchez‐Valle, Mircea Balasa, Albert Lladó   +33 more
wiley   +1 more source

Genome-Informed Loop-Mediated Isothermal Amplification (LAMP) Assays for Detection and Differentiation of <i>Ralstonia pseudosolanacearum</i> Phylotypes I and III. [PDF]

Int J Mol Sci
Karakkat BB, Huang Q, Nunziata SO, Yasuhara-Bell J.   +3 more
europepmc   +1 more source

Spotlight: Rising stars in cytology. [PDF]

Cancer Cytopathol
Lynn TJ.
europepmc   +1 more source

New Facile Testing Protocols to Assess Conformability of Advanced Dressings for Wound Healing. [PDF]

Int J Mol Sci
Ghezzi D, Graziani G.
europepmc   +1 more source

Use of single fibre fatiguing experiments to understand breakage in textured hair Part I. [PDF]

Int J Cosmet Sci
Evans TA.
europepmc   +1 more source

Charting the Future of Canadian Adult Acute Myeloid Leukemia (AML) Laboratory Testing: A Canadian Leukemia Study Group Current State Mapping of Diagnostic AML Laboratory Practice. [PDF]

Curr Oncol
Luo TYX, Usta S, McGinnis E, Mather CA, Bergeron J, Gillan T, Mahe E, Capo-Chichi JM, Berardi P, Park PC, Itani D, Rajput A, Chin-Yee B, Han FY, Butcher DT, Fesser J, DeCoteau J, Quest G, McCready E, Tsui H.   +19 more
europepmc   +1 more source