Results 31 to 40 of about 5,698,365 (312)
A case of placental trisomy 18 mosaicism causing a false negative NIPT result
Molecular Cytogenetics, 2017 Background The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolutionizing prenatal screening as a ...
Jiexia Yang +7 more
doaj +1 more source
, 2012 This book provides detailed and comprehensive coverage on various aspects of prenatal diagnosis-with particular emphasis on sonographic and molecular diagnostic issues.
core +3 more sources
The significance of trisomy 7 mosaicism in noninvasive prenatal screening
Human Genomics, 2019 Background This study was an evaluation of the role of noninvasive prenatal testing (NIPT) in the detection of trisomy 7 in prenatal diagnosis. Method A total of 35 consecutive cases underwent screening for trisomies by cell-free DNA testing between ...
Yiming Qi +7 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Central nervous system (CNS) neuroblastoma, FOXR2‐activated, is a recently recognized entity in the WHO CNS5 classification, defined by activation of the FOXR2 transcription factor and unique histopathological features. This review synthesizes available literature and pooled clinical data, providing insight into demographics ...
Sudarshawn Damodharan +1 more
wiley +1 more source
Rolling Bearing Fault Diagnosis Based on WGWOA-VMD-SVM [PDF]
, 2022 A rolling bearing fault diagnosis method based on whale gray wolf optimization algorithm-variational mode decomposition-support vector machine (WGWOA-VMD-SVM) was proposed to solve the unclear fault characterization of rolling bearing vibration signal ...
Zhou, Junbo +7 more
core +1 more source
Molecular Genetics & Genomic Medicine, 2020 Background Hemoglobin H (Hb H) disease can be caused by compound heterozygosity for two different mutations or from homozygotes for mutations, and conventional genetic methods may lead to misdiagnosis when Hb H disease is combined with a rare β ...
Hou Qian +5 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Cerebellar ataxia after pediatric brain tumor treatment can cause persistent gait, balance, and speech impairment, yet no established rehabilitation strategy exists. Somato‐cognitive coordination therapy (SCCT) is a virtual reality–guided intervention designed to promote sensorimotor integration through visually constrained reaching
Masanobu Takeuchi +10 more
wiley +1 more source
Diagnosis of Multiple-Voltage Design with Bridge Defect [PDF]
, 2009 Multiple voltage is an effective dynamic power reduction design technique commonly used in low-power ICs. To the best of our knowledge, there is no reported work for diagnosing multiple-voltage enabled ICs, and the aim of this paper is to propose a ...
Reddy, Sudhakar M. +3 more
core
Genetics ResearchAutism spectrum disorders (ASDs) are heterogeneous neurodevelopmental conditions with complex genetic etiologies. Recent advances in whole exome sequencing (WES) have enabled comprehensive detection of clinically relevant variants, particularly single ...
Zhiwei Wang +4 more
doaj +1 more source
Pediatric Blood &Cancer, EarlyView.ABSTRACT Background Acute lymphoblastic leukemia (ALL) is the most common pediatric cancer, with an overall survival now surpassing 90% in developed countries. However, treatments are not without adverse effects. In this study, we apply the severe toxicity‐free survival (STFS) framework to determine the prevalence of 21 physician‐defined severe ...
Lane Collier +10 more
wiley +1 more source