Results 251 to 260 of about 7,339,385 (306)

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier, Ugo Sorrentino, Matias Wagner, Marta Zawadzka, Anna Lemska, Maria Mazurkiewicz‐Bełdzińska, Michael Zech   +6 more
wiley   +1 more source

Molecular diagnostics for cutaneous leishmaniasis: progress towards fulfilling the WHO target product profile. [PDF]

Parasitology
Jarzabek J, Denny PW.
europepmc   +1 more source

Prevalence and Distribution of Antimicrobial Resistance-Associated Mutations in <i>Mycoplasma genitalium</i> Identified Through Routine Molecular Diagnostics in Korea. [PDF]

Microorganisms
Lim HJ, Hong YT, Baek SH, Park MY, Kim MJ, Sohn YH, Yang YJ.   +6 more
europepmc   +1 more source

Precision imaging and evolving therapies in paragangliomas and pheochromocytomas: from molecular diagnostics to imaging-guided management. [PDF]

Insights Imaging
Choucair A, Zdunek A, Liao M, Bodei L, Deandreis D, Das J, Barbe R, Bergsland E, Geyer S, Bidault F, Garcia G, Yeh R, Balleyguier C, Lassau N, Dercle L, Ammari S.   +15 more
europepmc   +1 more source

Advancing breast cancer therapy in the era of molecular diagnostics. [PDF]

Breast
Carnevale MG, Colciago RR, De Santis MC, Cortesi L, De Marco C, Marra A, Vingiani A, Nolè F, Curigliano G, Pruneri G, Llombart-Cussac A, Di Cosimo S, Cortes J.   +12 more
europepmc   +1 more source

Celebrating 25 Years of Innovation with a Tribute to Our Contributors and the Future of Molecular Diagnostics. [PDF]

J Mol Diagn
Przygodzki RM.
europepmc   +1 more source

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Fungal Molecular Diagnostics

Clinics in Chest Medicine, 2009
This article summarizes the current state of the art in molecular diagnostic methods for the detection and identification of fungi as performed in the mycology laboratory. The advantages and limitations of current molecular testing methods are evaluated, with examples provided from the recent literature. Finally, commentary is provided on the future of
Matt Binnicker
exaly   +3 more sources