Integrating Long‐Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia
Abstract Background Although many individuals with dystonia present with features indicative of single‐gene etiologies, obtaining definitive genetic diagnoses can be challenging. Objective We assessed the value of nanopore‐based long‐read sequencing (LRS) in achieving molecular clarification of dystonic syndromes.
Ugo Sorrentino +30 more
wiley +1 more source
Philadelphia chromosome-negative chronic myelogenous leukemia without breakpoint cluster region rearrangement: a chronic myeloid leukemia with a distinct clinical course [PDF]
Razelle Kurzrock +4 more
openalex +1 more source
This study deals with the effect of doping, angle, and temperature on an upper critical magnetic field (HC2) in a layered two‐band model Nd2−xCexCuO4−δ${\mathrm{N}}{{{\mathrm{d}}}_{2 - {\mathrm{x}}}}{\mathrm{C}}{{{\mathrm{e}}}_{\mathrm{x}}}{\mathrm{Cu}}{{{\mathrm{O}}}_{4 - {{\delta}}}}$ (NCCO) superconductor.
Zewdie Yayeh +2 more
wiley +1 more source
OBJECTIVITY AND RELIABILITY OF THE LACTATE BREAKPOINT
P. Di Vico +3 more
openalex +1 more source
Relevant breakpoints for ticarcillin-clavulanic acid should be set primarily with data from ticarcillin-resistant strains [PDF]
C. C. Sanders, S J Cavalieri
openalex +1 more source
Weight Loss After Obesity Disrupts Cognitive Flexibility Through Reinforcement Learning Strategies
ABSTRACT Objective Despite successful weight loss, many individuals with obesity regain weight, yet cognitive factors in the weight loss state remain unclear. Here, we tested whether obesity induces deficits in cognitive flexibility, a core component of reinforcement learning (RL), after body weight normalizes.
Yufan Li +6 more
wiley +1 more source
PRACTICAL CONSIDERATIONS IN THE ANALYSIS OF CHROMOSOMAL DELETION BREAKPOINTS BY PULSED FIELD GEL ELECTROPHORESIS [PDF]
Gail Abrahamson +2 more
openalex +1 more source
Abstract Development of ipsilateral breast carcinoma following a diagnosis of breast ductal carcinoma in situ (DCIS) has been assumed to represent recurrence of the primary tumour. However, this may not always be the case, and it is important to determine how often such recurrences represent new tumours.
Tanjina Kader +32 more
wiley +1 more source
Assessing the feasibility of near-infrared spectroscopy for evaluating physiological exercise thresholds. [PDF]
Iskra S, Paravlić A.
europepmc +1 more source
Refined determination of breakpoints of the translocation t(1;7) associated with signs of HMC syndrome [PDF]
Tatsuro Ikeuchi +3 more
openalex +1 more source

