Results 121 to 130 of about 29,360 (257)

Functional Data Strengthen Clinical Validation of PhenoScore Phenotype‐Guided AI for ANKRD11 Missense Variants

Clinical Genetics, EarlyView.
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen, Elke de Boer, Gholson J. Lyon, Bert B. A. de Vries, Charlotte W. Ockeloen, Alexander J. M. Dingemans   +5 more
wiley   +1 more source

Parabolic cylinder antennas [PDF]

Some of the features of single and dual parabolic-cylinder reflector antenna systems are discussed in terms of wave conversions, field divergence, and wavefronts in Fresnel and Fraunhofer regions. Beam-squinting, by mechanical displacement and electrical
Schmidt, R. F.
core   +1 more source

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

Orthogonal sets of data windows constructed from trigonometric polynomials [PDF]

Suboptimal, easily computable substitutes for the discrete prolate-spheroidal windows used by Thomson for spectral estimation are given.
Greenhall, C. A.
core   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

Clinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw, Tzung‐Chien Hsieh, Martijn Koetsier, Abdulrazak Alali, Fatimah Albuainain, Elena Bacchelli, Tahsin Stefan Barakat, Yline Capri, Sandra Chantot‐Bastaraud, Valeria Capra, Deanna Alexis Carere, Emma Clement, Nour Elkhateeb, Madeleine Franchi, Jing‐Mei Li, Nicole Matthews, Vanda McNiven, Sarju G. Mehta, Masayuki Nakamura, Chanika Phornphutkul, Nicole Revencu, Marcello Scala, Natalie Shallow, Jennifer Stefanich, Marta Viggiano, Paola Visconti, Susan Walker, Federico Zara, Mariëlle Alders, Bobby P. C. Koeleman, Renske Oegema   +30 more
wiley   +1 more source

Story2Board: A Training‐Free Approach for Expressive Visual Storytelling

Computer Graphics Forum, EarlyView.
Abstract We present Story2Board, a training‐free framework for expressive storyboard generation from natural language. Existing methods narrowly focus on subject identity, overlooking key aspects of visual storytelling such as spatial composition, background evolution, and narrative pacing.
D. Dinkevich, M. Levy, O. Avrahami, D. Samuel, D. Lischinski   +4 more
wiley   +1 more source

Patient outcomes in KCNQ2 developmental and epileptic encephalopathy

Developmental Medicine &Child Neurology, EarlyView.
Abstract The aim of this study was to review and summarize the literature describing clinically observed or caregiver‐reported and patient‐reported KCNQ2 developmental and epileptic encephalopathy (DEE) outcomes. Three online databases and selected congress proceedings were searched (August 2023).
Grant Maclaine, Michele H. Potashman, Deepshikha Pawar, Sugandh Sharma, Katja Rudell, Jason Lerner, Vlad Coric, Anne T. Berg, John Millichap, Gil L'Italien   +9 more
wiley   +1 more source

Mental state, body image disturbances and social competences in adolescents with strabismus

Psychiatria i Psychologia Kliniczna, 2010
Introduction: Strabismus is a serious ophthalmological and cosmetic disorder which may cause psychological discomfort. An increased incidence of various mental disturbances in patients with squint has been described.
Cecylia Smug, Tomasz Pawełczyk, Agnieszka Pawełczyk, Jolanta Rabe-Jabłońska   +3 more
doaj  

Ophthalmological outcomes, visual perception, fine motor precision, and visual‐motor integration in children born very preterm

Developmental Medicine &Child Neurology, EarlyView.
Children born very preterm with poorer ophthalmological function at 2 years 6 months, 6 years 6 months, and 12 years showed poorer visuo‐perceptual, visual‐motor, and fine motor skills at 12 years, emphasizing the role of visual input in visual‐motor development.
Martin Johansson, Eva Larsson, Gerd Holmström, Olga Kochukhova, Lena Hellström‐Westas, Ylva F. Kaul   +5 more
wiley   +1 more source

Epidemiology of cerebral palsy in Brazil through the lens of the International Classification of Functioning, Disability and Health framework

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To establish an overall description of people with cerebral palsy (CP) in Brazil, including the epidemiology, clinical features, functioning, and access to rehabilitation and equipment, through the lens of the International Classification of Functioning, Disability and Health (ICF) framework, using preliminary data from the Brazilian ...
Hércules Ribeiro Leite, Luana Cristina da Silva, Elton Duarte Dantas Magalhães, Israt Jahan, Nadia Badawi, Gulam Khandaker, Maysa Ferreira Martins Ribeiro, Juliana de Alcântara Moreira Pereira, Luma Sthephanine Viana Roque da Silva, Maria de las Mercedes Ruiz Brunner, Paula Silva de Carvalho Chagas   +10 more
wiley   +1 more source