Results 91 to 100 of about 12,024,582 (300)

Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome

open access: yesBasic and Clinical Neuroscience, 2020
Introduction: Whole Exome Sequencing (WES) has been increasingly utilized in genetic determinants of various inherited diseases. Methods: We applied WES for a patient presenting 3-Methylglutaconic Aciduria (MEG), Deafness (D), Encephalopathy (E), and ...
Mina Zamani   +8 more
doaj  

Hybrid Fault diagnosis capability analysis of Hypercubes under the PMC model and MM* model [PDF]

open access: yesarXiv, 2017
System level diagnosis is an important approach for the fault diagnosis of multiprocessor systems. In system level diagnosis, diagnosability is an important measure of the diagnosis capability of interconnection networks. But as a measure, diagnosability can not reflect the diagnosis capability of multiprocessor systems to link faults which may occur ...
arxiv  

The neuropathological diagnosis of Alzheimer’s disease

open access: yesMolecular Neurodegeneration, 2019
Alzheimer’s disease is a progressive neurodegenerative disease most often associated with memory deficits and cognitive decline, although less common clinical presentations are increasingly recognized.
M. DeTure, D. Dickson
semanticscholar   +1 more source

A novel TAB2 nonsense mutation (p.S149X) causing autosomal dominant congenital heart defects: a case report of a Chinese family

open access: yesBMC Cardiovascular Disorders, 2020
Background TAB2 is an activator of MAP 3 K7/TAK1, which is required for the IL-1 induced signal pathway. Microdeletions encompassing TAB2 have been detected in various patients with congenital heart defects (CHD), indicating that haploinsufficiency of ...
Jia Chen   +10 more
doaj   +1 more source

2. Classification and Diagnosis of Diabetes: Standards of Medical Care in Diabetes—2019

open access: yesDiabetes Care, 2018
The American Diabetes Association (ADA) “Standards of Medical Care in Diabetes” includes ADA's current clinical practice recommendations and is intended to provide the components of diabetes care, general treatment goals and guidelines, and tools to ...

semanticscholar   +1 more source

Rare case of aberrant course of facial nerve traversing above oval window

open access: yesRadiology Case Reports
This research presents a unique observation of congenital conductive hearing loss linked to an atypical pathway of the facial nerve covering the oval window—a condition first reported by Henner.
Yash Heda, MD Radio-diagnosis   +1 more
doaj  

Evaluation of right ventricular function in fetuses with isolated single umbilical artery using spatiotemporal image correlation M-mode

open access: yesCardiovascular Ultrasound, 2019
Background Postnatal outcome of fetuses with isolated single umbilical artery (SUA) is determined mainly by right ventricular function. Our study examined whether there are differences in right ventricular function during the gestation period of fetuses ...
Tian-gang Li   +4 more
doaj   +1 more source

2022 ESC/ERS Guidelines for the diagnosis and treatment of pulmonary hypertension.

open access: yesEuropean Heart Journal, 2022
M. Humbert   +28 more
semanticscholar   +1 more source

Deep Learning in Computer-Aided Diagnosis and Treatment of Tumors: A Survey [PDF]

open access: yesarXiv, 2020
Computer-Aided Diagnosis and Treatment of Tumors is a hot topic of deep learning in recent years, which constitutes a series of medical tasks, such as detection of tumor markers, the outline of tumor leisures, subtypes and stages of tumors, prediction of therapeutic effect, and drug development.
arxiv  

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