Results 231 to 240 of about 112,737 (278)

Optical coherence tomography angiography for the diagnosis of choroidal neovascularization in age-related macular degeneration: a systematic review. [PDF]

Einstein (Sao Paulo)
Soares TS, Cristino ADS, Silva AF, Santos LRD.   +3 more
europepmc   +1 more source

Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions

Clinical Genetics, EarlyView.
Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji, Xiaonan Zhao, Jill A. Rosenfeld, Seema R. Lalani, Daryl A. Scott   +4 more
wiley   +1 more source

Finding More in Less: Precision Medicine for Pancreatic Cancer Using Residual Cytology Samples

Cytopathology, EarlyView.
The study evaluates the use of residual liquid‐based cytology (LBC) samples from pancreatic ductal adenocarcinoma (PDAC) for molecular analysis. It shows that LBC samples preserve nucleic acid quality and remain suitable for next‐generation sequencing (NGS) and MSI testing even after prolonged storage, underscoring their value when other samples are ...
Raquel Antón‐Peñalver, María Ortega, Jose Francisco González‐Muñoz, Desamparados Compañ, Constanza Galindo, Clara Arnau, Marisol Huerta, Valentina Gambardella, Desamparados Roda, Rosana Villagrasa, Vicente Sanchiz, Andrés Peña, Elena Muñoz‐Forner, Isabel Mora Oliver, Luis Sabater, Andrés Cervantes, Antonio Ferrández, Clara Alfaro‐Cervelló   +17 more
wiley   +1 more source

COMPARISON OF CHARACTERISTICS AND TREATMENT OUTCOMES OF TYPE 1 AND TYPE 2 MYOPIC CHOROIDAL NEOVASCULARIZATION AFTER ANTIVASCULAR ENDOTHELIAL GROWTH FACTOR THERAPY. [PDF]

Retina
Tew TB, Hsieh YT, Tsui MC, Hsia Y, Lee CY, Wang SW, Huang CJ, Ma IH, Hung KC, Lai TT, Yang CH, Yang CM, Ho TC.   +12 more
europepmc   +1 more source

Case Report: Sengers syndrome caused by a novel 7.6 kb AGK deletion misdiagnosed as isolated congenital cataract. [PDF]

Front Pediatr
Gong X, Liu Y, Liang H.
europepmc   +1 more source

Evaluation of a New Potential Bevacizumab Biosimilar in Corneal Neovascularization. [PDF]

Turk J Ophthalmol
Özgür A, Yeşilırmak N, İnan MA, Bağrıaçık EÜ, Özmen MC.   +4 more
europepmc   +1 more source

Dosage effect of copy number variation in epilepsy and ten regions of the human brain. [PDF]

Sci Rep
De T, Coin L, Johnson MR.
europepmc   +1 more source

Erratum. [PDF]

Liver Cancer
europepmc   +1 more source

A rare case of mosaic partial tetrasomy 18p presenting with oligomenorrhea and intellectual disability: a case report. [PDF]

Front Med (Lausanne)
Deng G, Liu W, Lai Y, Pan J, Chen Y, Song J, Zhang D, Liang X, Ning S, Lu Y, Liang Y, Li D.   +11 more
europepmc   +1 more source

Toward Graph-Based Decoding of Tumor Evolution: Spatial Inference of Copy Number Variations. [PDF]

Diagnostics (Basel)
Zhang Y, Yang Y, Kong Y, Zhong B, Nakai K, Lu H.   +5 more
europepmc   +1 more source