Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature. [PDF]
Case Rep GenetAbdelhamed Z +10 more
europepmc +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective While RNAseq has enhanced variant interpretation in postnatal cases, its potential in the prenatal setting remains underexplored. This study investigates the utility of RNAseq in prenatal diagnostics by analyzing the expression profiles of cultured chorionic villus samples (cCVS) and amniotic fluid (cAF) samples. Methods We performed
Maria C. Vladoiu +7 more
wiley +1 more source
Beyond first sip: combination of intermittent cow's milk exposure and atopic dermatitis associated with severe IgE mediated cow's milk reactions-a retrospective study. [PDF]
Allergy Asthma Clin ImmunolPlessis A, Cook VE, Erdle SC, Chan ES.
europepmc +1 more source
A Dual Center Approach to CMA-ES
, 2019 Covariance Matrix Adaptation - Evolution Strategies (CMA-ES) is a renowned state-of-the-art black-box optimzation algorithm in the field of Evolutionary Computation. As real-world optimzation problems began to be characterized as multimodal, CMA-ES was subject to modifications to improve it’s performance on these problems.
openaire +1 more source
Prenatal Diagnosis, EarlyView.ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Yung Hang Lam +5 more
wiley +1 more source
A spam detection model based on the discriminative TF-IDF belief rule base. [PDF]
Sci RepYang X, Zhou W, Duan X, Ma N, Wang Y.
europepmc +1 more source
Status and future of seed conservation of threatened plants in the post‐2020 era
PLANTS, PEOPLE, PLANET, EarlyView.Ambitious targets have been set to backup seeds of threatened plants by the global strategy for plant conservation (GSPC), but it is unclear in how far these targets have been met and how seed collection should be organized to meet future challenges. Here, we provide an overview of the status of 44 countries in achieving seed conservation targets.
Andreas Ensslin +130 more
wiley +1 more source
Clinical significance of regions of homozygosity detection in prenatal chromosomal microarray analysis. [PDF]
HGG AdvHao Y +11 more
europepmc +1 more source
Quarterly Journal of the Royal Meteorological Society, EarlyView.Key Findings: An assimilation methodology is established for the Tomorrow.io microwave sounder (TMS) flying on CubeSats in sun‐synchronous and inclined orbits, and in all cloud scenes. The TMS has a significant impact on weather forecast lead times up to 3 days in the Tropics in a research‐quality numerical weather prediction setting, and yields water ...
Jonathan J. Guerrette +3 more
wiley +1 more source
High Concordance of Copy Number Variants Detected by Chromosomal Microarray and Exome Sequencing in Clinical Diagnostics. [PDF]
Clin GenetBirnbaum R +13 more
europepmc +1 more source