Results 201 to 210 of about 4,199,245 (250)

Artificial Intelligence in Ophthalmology: From Methodological Advances to Clinical Translation and Future Directions

Eye &ENT Research, EarlyView.
ABSTRACT Artificial intelligence (AI) is reshaping ophthalmology from task‐specific image analysis toward multimodal, longitudinal, and clinically integrated decision support. This narrative review summarizes the methodological evolution of ophthalmic AI, including traditional machine learning, task‐specific deep learning, self‐supervised learning ...
Yuxin Liu, Hanruo Liu
wiley   +1 more source

Are CNV Risk Scores Linked to Neurodevelopmental and Mental Health Characteristics Within CNV-Associated Intellectual Disability?

Chi Z, Alexander-Bloch A, Neufeld SA, Wolstencroft J, Skuse D, IMAGINE-ID consortium, Baker K.   +6 more
europepmc   +1 more source

Diagnostic efficiency of whole exome sequencing in the search for genetic causes of hereditary diseases in Yugra (West Siberia, Russia). [PDF]

Vavilovskii Zhurnal Genet Selektsii
Donnikov MY, Suchko PA, Morozkina AV, Kolbasin LN, Popova EA, Papanov SI, Koshevaya YS, Danilov LG, Eismont YA, Glotov OS, Kovalenko LV.   +10 more
europepmc   +1 more source

KBG syndrome: A scoping review of electroclinical features of patients with epilepsy

Epileptic Disorders, EarlyView.
Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini, Evripidis Pityrigkas, Zoi Kallia, Georgia Pepe, Antonis Frontistis, Dimitrios Profer, Vasilios Kimiskidis   +6 more
wiley   +1 more source

An Improved Elk Herd Optimiser (IEHO). [PDF]

Biomimetics (Basel)
Wang Y, Du F, Chuai L.
europepmc   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

An expectation and maximization algorithm for multivariate genome-wide association studies (EMmvGWAS). [PDF]

Genetics
Teng CS, Wang X, Liu C, Wang Q, Cui Y, Xu S.   +5 more
europepmc   +1 more source

Precision therapies for genetic epilepsies in 2025: Promises and pitfalls

Epilepsia Open, EarlyView.
Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang, Emilio Perucca, Samuel F. Berkovic, Piero Perucca   +3 more
wiley   +1 more source

Exercising electrocardiograms from Thoroughbred racehorses with exercise associated sudden death

Equine Veterinary Journal, EarlyView.
Abstract Background Exercise associated sudden death (EASD), defined as a fatal collapse in a closely monitored and previously presumed clinically healthy horse that occurs during exercise or within approximately 1 h after exercise, is disproportionately more common in equine than in human athletes.
Cristobal Navas de Solis, M. Durando, L. Nath, S. Durward‐Akhurst   +3 more
wiley   +1 more source

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care. [PDF]

HGG Adv
Rockowitz S, Shao W, French C, Truong TK, Hagen J, McGonigle R, Geltzeiler A, Sheidley B, Smith L, D'Gama AM, Irons M, Chou J, Stoler J, Kritzer A, Rodan L, Shimamura A, Bodamer O, Sacharow S, Soul JS, Srivastava S, Kennedy AR, Abu-El-Haija A, Lai A, Olson H, Juusola J, Ryan E, Friedman B, Singh A, Li C, Mallik R, Strickland G, Prinzing G, Mo A, O'Donnell-Luria A, Bolton J, Boone PM, Brucker W, Duyzend M, Mahida S, Miller DT, Omorodion J, Petit J, Picker J, Poduri A, Carlston C, Wojcik MH, Sliz P, Chung WK.   +47 more
europepmc   +1 more source