Results 51 to 60 of about 8,808,626 (352)

Unveiling Hidden Genetic Architectures: Molecular Diagnostic Yield of Whole Exome Sequencing in 50 Children With Autism Spectrum Disorder Negative for Copy Number Variations

open access: yesGenetics Research
Autism 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

Potential influence of parental copy number variations on noninvasive prenatal testing (NIPT): two case reports

open access: yesMolecular Cytogenetics, 2020
Background Small subchromosomal deletions and duplications caused by copy number variants (CNVs) can now be detected with noninvasive prenatal testing (NIPT) technology.
Yiming Qi   +6 more
doaj   +1 more source

The differential diagnosis of chorea [PDF]

open access: yes, 2007
Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Tabrizi, SJ, Wild, EJ
core   +1 more source

The epithelial barrier theory proposes a comprehensive explanation for the origins of allergic and other chronic noncommunicable diseases

open access: yesFEBS Letters, EarlyView.
Exposure to common noxious agents (1), including allergens, pollutants, and micro‐nanoplastics, can cause epithelial barrier damage (2) in our body's protective linings. This may trigger an immune response to our microbiome (3). The epithelial barrier theory explains how this process can lead to chronic noncommunicable diseases (4) affecting organs ...
Can Zeyneloglu   +17 more
wiley   +1 more source

Can trans-cerebellar diameter supersede other fetal biometry in measuring gestational age? A prospective study

open access: yesThe Egyptian Journal of Radiology and Nuclear Medicine, 2021
Background Estimation of gestational age plays a pivotal role in day to day clinical practice for appropriate management of newborn. The trans-cerebellar diameter can predict gestational age in cases of variations of fetal head shape such as ...
Rintu George   +6 more
doaj   +1 more source

Design of a wireless patient diagnosis system [PDF]

open access: yes, 2012
Medical administrative and diagnosis procedures require the retrieval of patient diagnosis history before treatments and drug administration. This involves careful checking of the patient past record which might be stored electronically or in paper ...
Holmes, Violeta, Jimoh, F.
core  

The trajectory to diagnosis with pulmonary arterial hypertension: a qualitative study [PDF]

open access: yes, 2012
Objectives To investigate the patient's experience of the trajectory to receiving a diagnosis of pulmonary arterial hypertension (PAH) and inform the provision of care for this patient group.
Armstrong, I   +4 more
core   +2 more sources

Goodbye flat lymphoma biology

open access: yesFEBS Letters, EarlyView.
Three‐dimensional (3D) biological systems have become key tools in lymphoma research, offering reliable in vitro and ex vivo platforms to explore pathogenesis and support precision medicine. This review highlights current 3D non‐Hodgkin lymphoma models, detailing their features, advantages, and limitations, and provides a broad perspective on future ...
Carla Faria   +3 more
wiley   +1 more source

Family members dealing with childhood cancer : a study on the role of family functioning and cancer appraisal [PDF]

open access: yes, 2019
Objectives: Childhood cancer is a life-threatening disease that poses significant challenges to the life of the diagnosed child and his/her family members.
Cosyns, Veerle   +7 more
core   +1 more source

From omics to AI—mapping the pathogenic pathways in type 2 diabetes

open access: yesFEBS Letters, EarlyView.
Integrating multi‐omics data with AI‐based modelling (unsupervised and supervised machine learning) identify optimal patient clusters, informing AI‐driven accurate risk stratification. Digital twins simulate individual trajectories in real time, guiding precision medicine by matching patients to targeted therapies.
Siobhán O'Sullivan   +2 more
wiley   +1 more source

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