Results 151 to 160 of about 2,789,483 (285)

Eye movement abnormalities in autism spectrum disorder and prodromal psychosis: a review of overlaps and biomarkers. [PDF]

Front Child Adolesc Psychiatry
Terman E, Sanilevich L, Zaballos C.
europepmc   +1 more source

ParamNet: A Physics‐Guided Deep Learning Framework for Intelligent Self‐Inversion of Vacuum Optical Levitation Systems

Advanced Intelligent Systems, EarlyView.
A physics‐guided deep learning framework, ParamNet, is introduced for the intelligent self‐inversion of vacuum optical tweezers. By fuzing dual‐branch time–frequency features with physical dynamical constraints, it achieves high‐accuracy calibration of trap parameters from short‐window, low‐frequency trajectories, outperforming traditional methods ...
Qi Zheng, Wenfeng Fan, Feng Li, Jian Wu, Wei Quan   +4 more
wiley   +1 more source

Preliminary Observations of Bilateral Neovascular Age-Related Macular Degeneration Progression: A Real-World Retrospective Case Series. [PDF]

J Clin Med
Tseng CH, Lin MY, Chiou DI, Hsu CH, Wu CM.   +4 more
europepmc   +1 more source

Stroke in Children With Posterior Fossa Brain Malformations, Hemangiomas, Arterial Anomalies, Coarctation of the Aorta and Cardiac Defects, and Eye Abnormalities (PHACE) Syndrome: A Systematic Review of the Literature

Stroke, 2012
D. Siegel, K. Tefft, T. Kelly, Craig Johnson, D. Metry, P. Burrows, E. Pope, M. Cordisco, K. Holland, M. Maheshwari, P. Keith, M. Garzon, C. Hess, I. Frieden, H. Fullerton, B. Drolet   +15 more
semanticscholar   +1 more source

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Oculodermal melanocytosis (Nevus of Ota) in a Great Dane with concurrent ocular abnormalities: a case report. [PDF]

Vet Res Commun
Ziółkowska N, Cisło-Sankowska A, Pietruszyńska M.   +2 more
europepmc   +1 more source

The artificial production of eye abnormalities in the chick embryo

, 1914
C. R. Stockard
semanticscholar   +1 more source

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Actinomycin D-induced bilateral optic nerve atrophy: a case report. [PDF]

Int J Ophthalmol
Zhu K, Feng CY, Ye XF, Chang Q, Xu GZ, Wang M.   +5 more
europepmc   +1 more source

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source