Results 131 to 140 of about 65,000 (292)

Two New Cases of Uner Tan Syndrome: One Man\ud with Transition from Quadrupedalism to Bipedalism;\ud One Man with Consistent Quadrupedalism [PDF]

, 2010
Background: Uner Tan syndrome, first described in\ud 2005, consists of three main symptoms: habitual\ud locomotion on all four extremities, impaired\ud intelligence, and dysarthric or no speech.
Tan, Prof. Dr. Uner
core  

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

Detection of amblyopia utilizing generated retinal reflexes [PDF]

Investigation confirmed that GRR images can be consistently obtained and that these images contain information required to detect the optical inequality of one eye compared to the fellow eye.
Hay, S. H., Kerr, J. H.
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

Effect of Trabeculodescemetic Window Perforation in Deep Sclerectomy on Intraocular Pressure in Primary Congenital Glaucoma

Ophthalmology and Therapy
Introduction Primary congenital glaucoma causes vision loss if intraocular pressure is uncontrolled. Nonpenetrating deep sclerectomy is effective in treating primary congenital glaucoma.
Abdulaziz AlQattan, Konrad Schargel, Ibrahim AlJadaan, Nouf AlZendi, Gorka Sesma   +4 more
doaj   +1 more source

An observational study of pediatric healthcare burden in Angelman syndrome: results from a real-world study. [PDF]

, 2019
BACKGROUND:The objective of this study is to describe variations in the healthcare resource utilization (HRU) among individuals with Angelman syndrome (AS) over the first 12 years of life. Data for this study were drawn from the AS Natural History study (
Bird, Lynne M, Cabo, Raquel, Khan, Nasreen, Tan, Wen-Hann, Tayag, Regina   +4 more
core   +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

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

A Stratified Surgical Approach for Convergence Insufficiency-Type Exotropia Based on Near Deviation Magnitude: A Retrospective Cohort Study of Motor and Sensory Outcomes

Therapeutics and Clinical Risk Management
Feng Dong, Ping Liu, Yanyan Wang Department of Strabismus and Pediatric Ophthalmology, Eye Good Hospital, Wuhan, People’s Republic of ChinaCorrespondence: Feng Dong, Department of Strabismus and Pediatric Ophthalmology, Eye Good Hospital, No.
Dong F, Liu P, Wang Y
doaj