Results 231 to 240 of about 82,187 (270)

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Digital Specimen Tracking- and ISO 15189-Oriented Risk Management in Anatomic Pathology: A Qualitative Study of Expert Perspectives in Western Austria. [PDF]

Diagnostics (Basel)
Sommeregger P, Pallua N, Zelger B, Kahlil R, Pallua JD.   +4 more
europepmc   +1 more source

An incidental discovery of a silent tracheal bronchus during flexible bronchoscopy: a case report and anesthetic perspective. [PDF]

Front Pediatr
Zou C, Lv P, Li X, Yang Q, Liu L.
europepmc   +1 more source

Xanthogranulomatous Pyelonephritis Presenting as Significant Hydronephrosis in an Adult Male Who Was Managed with Robotic-Assisted Radical Nephrectomy: A Case Report and Current Literature Review. [PDF]

Case Rep Urol
Berends RWJ, Pulford C, Miller C, O'Pry E, Eames R, Shockley K, Maatman T.   +6 more
europepmc   +1 more source

LinkML: an open data modeling framework. [PDF]

Gigascience
Moxon SAT, Solbrig H, Harris NL, Kalita P, Miller MA, Patil S, Schaper K, Bizon C, Caufield JH, Cuesta SC, Cox C, Dekervel F, Dooley DM, Duncan WD, Fliss T, Gehrke S, Graefe ASL, Hegde H, Ireland AJ, Jacobsen JOB, Krishnamurthy M, Kroll C, Linke D, Ly R, Matentzoglu N, Overton JA, Saunders JL, Unni DR, Vaidya G, Vierdag WAM, LinkML Community Contributors , Ruebel O, Chute CG, Brush MH, Haendel MA, Mungall CJ.   +35 more
europepmc   +1 more source

Ten persistent myths about persistent identifiers

, 2018
openaire   +1 more source

Navigating open data sharing and privacy in the age of clinical AI research: from reidentification to pseudo-reidentification. [PDF]

EClinicalMedicine
Hallaj S, Heinke A, Kalaw FGP, Gim N, Blazes M, Owen J, Dysinger E, Benton ES, Cordier BA, Evans NG, Li-Pook-Than J, Snyder MP, Nebeker C, Zangwill LM, Baxter SL, McWeeney S, Lee CS, Lee AY, Patel B, AI-READI Consortium.   +19 more
europepmc   +1 more source

Spatial distribution and clustering of multidrug-resistant tuberculosis in Uganda: a nationwide ecological study (2014-2023)

Akello SR, Alunyo JP, Matovu JK, Emetu J, Oposhia J, Ssanyu GN, Bogere MN, Birungi P, Madenje M, Okalebo BC, Okiror W, Paasi G, Nsubuga S, Aujo D, Okibure A, Mukunya D, Olupot-Olupot P.   +16 more
europepmc   +1 more source