Results 71 to 80 of about 2,716,384 (302)
Effects of local mutations in quadratic iterations [PDF]
, 2020 We introduce mutations in replication systems, in which the intact copying mechanism is performed by discrete iterations of a complex quadratic map. More specifically, we consider a "correct" function acting on the complex plane (representing the space ...
Longbotham, Abraham, Radulescu, Anca R
core +2 more sources
Germline TP53 Mutations Causing Diamond–Blackfan Anemia: A French Report
Pediatric Blood &Cancer, EarlyView.ABSTRACT Diamond–Blackfan anemia is a rare congenital erythroblastopenia typically caused by mutations in ribosomal protein genes. Recently, gain‐of‐function mutations in TP53 have been identified as a novel cause of Diamond–Blackfan anemia. We report two French patients who both harbored a heterozygous TP53 deletion (NM_000546.5: c.1077delA; p ...
Rafael Moisan +6 more
wiley +1 more source
Concordance and mutation [PDF]
Geometry & Topology, 2001 Published in Geometry and Topology at http://www.maths.warwick.ac.uk/gt/GTVol5/paper26.abs ...
Kirk, Paul A, Livingston, Charles
openaire +3 more sources
Amortising the Cost of Mutation Based Fault Localisation using Statistical Inference
, 2019 Mutation analysis can effectively capture the dependency between source code and test results. This has been exploited by Mutation Based Fault Localisation (MBFL) techniques.
An, Gabin +3 more
core +1 more source
Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia [PDF]
, 2015 Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a difficult-to-diagnose cause of sudden cardiac death (SCD). We identified a family of 1400 individuals with multiple cases of CPVT, including 36 SCDs during youth.
Allegue, Catarina +12 more
core +3 more sources
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background PIK3CA‐related overgrowth spectrum (PROS) includes several rare overgrowth disorders resulting from somatic gain‐of‐function mutations in PIK3CA. Despite treatment advances, including the recent approval of alpelisib for PROS in the United States, literature detailing the patient experience with PROS is limited.
Vamsi Bollu +8 more
wiley +1 more source
, 2017 For genetic algorithms using a bit-string representation of length~$n$, the general recommendation is to take $1/n$ as mutation rate. In this work, we discuss whether this is really justified for multimodal functions. Taking jump functions and the $(1+1)$
Doerr, Benjamin +3 more
core +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT In pediatric patients, T‐cell lymphoblastic lymphoma (T‐LBL) survival exceeds 80%. Relapse remains associated with limited curative options. Frontline treatment is largely extrapolated from T‐cell acute lymphoblastic leukemia (T‐ALL) treatment, reflecting the ongoing debate, whether both entities represent distinct diseases or variants within ...
Marie C. Heider +4 more
wiley +1 more source
Timing the initiation of multiple myeloma
Nature Communications, 2020 The initial mutational processes and how these lead to progression in multiple myeloma (MM) are unclear. Here, the authors identify mutational signatures that occur over time in a large cohort of MM patients and suggest features that may help in early ...
Even H. Rustad +25 more
doaj +1 more source