Results 31 to 40 of about 45,424 (315)

Two Novel Compound Heterozygous Mutations in the TRAPPC9 Gene Reveal a Connection of Non-syndromic Intellectual Disability and Autism Spectrum Disorder

open access: yesFrontiers in Genetics, 2021
IntroductionAutism spectrum disorder (ASD) is characterized by deficits in communication, social interaction, and repetitive behavior. Up to 70% of ASD cases are linked with intellectual disability (ID).
Johannes Krämer   +3 more
doaj   +1 more source

AppQ: Warm-starting App Recommendation Based on View Graphs [PDF]

open access: yesarXiv, 2021
Current app ranking and recommendation systems are mainly based on user-generated information, e.g., number of downloads and ratings. However, new apps often have few (or even no) user feedback, suffering from the classic cold-start problem. How to quickly identify and then recommend new apps of high quality is a challenging issue.
arxiv  

Advances in related research about hereditary connective tissue diseases and the occurrence and rupture of intracranial aneurysm

open access: yesChinese Journal of Contemporary Neurology and Neurosurgery, 2021
The mechanism of occurrence and rupture of intracranial aneurysm is complex and may involve various environmental and genetic factors. Histopathological studies of intracranial aneurysm suggest a possible relationship between intracranial aneurysm and ...
CHEN Rui⁃qi, GUO Rui, YOU Chao
doaj  

Text Classification For Authorship Attribution Analysis [PDF]

open access: yesAdvanced Computing: An International Journal (ACIJ), Vol.4, No.5, September 2013, 2013
Authorship attribution mainly deals with undecided authorship of literary texts. Authorship attribution is useful in resolving issues like uncertain authorship, recognize authorship of unknown texts, spot plagiarism so on. Statistical methods can be used to set apart the approach of an author numerically.
arxiv   +1 more source

Clinical risk score for central precocious puberty among girls with precocious pubertal development: a cross sectional study

open access: yesBMC Endocrine Disorders, 2021
Background The gold standard for the diagnosis of central precocious puberty (CPP) is gonadotropin-releasing hormone (GnRH) or GnRH analogs (GnRHa) stimulation test. But the stimulation test is time-consuming and costly.
Jingyu You   +8 more
doaj   +1 more source

Research, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center

open access: yesOrphanet Journal of Rare Diseases, 2018
The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM).
Olga Y. Echeverri   +8 more
doaj   +1 more source

Which Shortcut Cues Will DNNs Choose? A Study from the Parameter-Space Perspective [PDF]

open access: yesarXiv, 2021
Deep neural networks (DNNs) often rely on easy-to-learn discriminatory features, or cues, that are not necessarily essential to the problem at hand. For example, ducks in an image may be recognized based on their typical background scenery, such as lakes or streams.
arxiv  

Drawing Robust Scratch Tickets: Subnetworks with Inborn Robustness Are Found within Randomly Initialized Networks [PDF]

open access: yesarXiv, 2021
Deep Neural Networks (DNNs) are known to be vulnerable to adversarial attacks, i.e., an imperceptible perturbation to the input can mislead DNNs trained on clean images into making erroneous predictions. To tackle this, adversarial training is currently the most effective defense method, by augmenting the training set with adversarial samples generated
arxiv  

Cystinuria: an inborn cause of urolithiasis [PDF]

open access: yesOrphanet Journal of Rare Diseases, 2012
Orphanet journal of rare diseases 7, 19 (2012).
Eggermann, Thomas   +2 more
openaire   +5 more sources

Blood phenylalanine fluctuation in phenylketonuric children treated by BH4 or low-phenylalanine diet from birth

open access: yesScientific Reports, 2023
The prognosis of phenylketonuria (PKU) is related to the quality of metabolic control all life-long. PKU treatment is based on a low-Phe diet, 6R-tetrahydrobiopterin (BH4) treatment for the BH4-responsive PKU patients or enzyme replacement therapy ...
Maurane Theron   +6 more
doaj   +1 more source

Home - About - Disclaimer - Privacy