Results 221 to 230 of about 69,200 (270)

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

Prenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear, Billie Lianoglou, Ugur Hodoglugil, W. Patrick Devine, Ashutosh Lal, Juan Gonzalez, Teresa N. Sparks   +6 more
wiley   +1 more source

Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis. [PDF]

Australas J Dermatol
So N, Yip L, Orchard D.
europepmc   +1 more source

A Prospective Evaluation of the Diagnostic Utility for Low‐Coverage Genome Sequencing in Prenatal Samples: A Comparison With Chromosomal Microarray Analysis

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective The present study aimed to evaluate the efficacy of LC‐GS in detecting clinically relevant chromosomal abnormalities in comparison with conventional CMA within a prenatal context. Methods We conducted a prospective study involving 200 amniotic fluid samples.
Yan Yin, Yuxia He, Chun Chen, Yanyan He, Jin Wang, Shengfang Qin, Hongna Wang, Kun Ma, Dahui Hu, Rui Xiao, Gang Wang, Xueyan Wang   +11 more
wiley   +1 more source

ADVCSO: Adaptive Dynamically Enhanced Variant of Chicken Swarm Optimization for Combinatorial Optimization Problems. [PDF]

Biomimetics (Basel)
Wu K, Wang L, Liu M.
europepmc   +1 more source

A Gaussian Process Regression IV Model for PV Outdoor Data

Progress in Photovoltaics: Research and Applications, EarlyView.
Each electrical performance measure of PV modules needs to be considered in the context of dynamically changing outdoor conditions. In this paper, we introduce a statistical model based on Gaussian process regressions designed to analyze PV outdoor data aiming to utilize all available information.
Timon S. Vaas, Bart E. Pieters, Evgenii Sovetkin, Andreas Gerber, Uwe Rau   +4 more
wiley   +1 more source

Analysis of performance and optimization of Iron Roughneck Tong Dies parameters. [PDF]

Sci Rep
Han D, Sha Y, Zhao X, Liu C, Yang K, Su B.   +5 more
europepmc   +1 more source

Characterizing season‐long floral trajectories in cotton with low‐altitude remote sensing and deep learning

PLANTS, PEOPLE, PLANET, EarlyView.
Plant breeding is a critical tool for increasing the productivity, climate resilience, and sustainability of agriculture, but current phenotyping methods are a bottleneck due to the amount of human labor involved. Here, we demonstrate high‐throughput phenotyping with an unmanned aerial vehicle (UAV) to analyze the season‐long flowering pattern in ...
Jeevan Adhikari, Daniel Petti, Deepak Vitrakoti, Wiriyanat Ployaram, Changying Li, Andrew H. Paterson   +5 more
wiley   +1 more source

Noninvasive prenatal diagnosis (NIPD) of non-syndromic hearing loss (NSHL) for singleton and twin pregnancies in the first trimester. [PDF]

Orphanet J Rare Dis
Li H, Li S, Zhao Z, Kong L, Fu X, Zhu J, Feng J, Tang W, Wu D, Kong X.   +9 more
europepmc   +1 more source

Approach to Macrodactyly: A Case Report and Diagnostic Algorithm for Syndromic and Isolated Forms. [PDF]

Pediatr Rep
Kyriakidis I, Pelagiadis I, Katzilakis N, Stiakaki E.   +3 more
europepmc   +1 more source

Unraveling Restless Legs Syndrome: A Comprehensive Review of Current Research and Future Directions. [PDF]

Int J Gen Med
Xu Y, Guan Y, Lang B.
europepmc   +1 more source