Results 121 to 130 of about 214,123 (285)
Journal of Intellectual Disability Research, EarlyView.ABSTRACT Background Whole exome sequencing (WES) has improved diagnostic rates for neurodevelopmental disorders (NDDs) while introducing challenges in novel variant interpretation. DHX30‐related NDD (DHX30‐NDD) is a recently described condition with an evolving phenotypic spectrum.
Nattaporn Tassanakijpanich +3 more
wiley +1 more source
Diagnoses of children admitted to NHS England hospitals for strabismus interventions.
, 2018 Esotropia = convergent strabismus; Exotropia = divergent strabismus; Concomitant = strabismus with equal misalignment in all directions of gaze, ie non-paralytic, non-constrictive, non-restrictive aetiology; Paralytic = associated with extraocular muscle
Joanne Hancox (5394662) +5 more
core +1 more source
Elevated Nocturnal CO2 and Autonomic Dysfunction in Children With Down Syndrome
Journal of Intellectual Disability Research, EarlyView.ABSTRACT Background Sleep‐disordered breathing (SDB) frequently complicates Down syndrome (DS). Beyond upper airway obstruction, emerging evidence suggests an autonomic nervous system (ANS) dysfunction affecting CO2 regulation. The aim of this study was to investigate nocturnal gas exchanges in children with DS and compare them to what has been ...
Jessica Taytard +12 more
wiley +1 more source
Refractive Errors and Concomitant Strabismus: A Systematic Review and Meta-analysis. [PDF]
Sci Rep, 2016 Tang SM +9 more
europepmc +1 more source
, 2014 Purpose: To evaluate the effect of amniotic membrane in reducing inflammation, fibrosis, adhesion formation, and ocular motility restrictions following strabismus surgery.Methods: in the first stage of this prospective, randomized study, 17 rabbits ...
Mônica Fialho Cronemberger +7 more
core +1 more source
CHARGE Syndrome: A Narrative Review and Update on Diagnosis, Assessment and Management
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Background CHARGE syndrome (CS) is a rare multisystemic genetic condition caused by a pathogenic variant in the DNA‐binding protein‐7 CHD7 gene. The condition affects the development of neural crest cells, which give rise to craniofacial structures, cranial nerves, ears, eyes and the heart, resulting in diverse and complex clinical features ...
Eleni M. van Gelder +7 more
wiley +1 more source
How Well Can Words Capture Facial Appearance? A Cross‐Linguistic Exploration
Topics in Cognitive Science, EarlyView.Abstract When describing faces, people often struggle with verbalizing facial features. Free descriptions seem to focus predominantly on aspects of faces that are inferred, for example, psychological traits, age, attractiveness, and so on, whereas facial features themselves are often described in a limited and imprecise fashion.
Ewelina Wnuk, Jan Wodowski
wiley +1 more source
Pitfalls in diagnosing and long‐term management of ceroid lipofuscinosis NCL4A in a mixed‐breed dog
Veterinary Record Case Reports, Volume 14, Issue 4, November 2026.Abstract An 8‐year‐old, spayed, female, mixed‐breed dog was presented with a 9‐month history of occasionally stumbling on walks, having difficulty navigating stairs and jumping into the car. A prior computed tomography scan of the head revealed mild leptomeningeal enhancement and suggested meningoencephalitis.
Ingeborg Hein +3 more
wiley +1 more source
Indian Journal of Ophthalmology, 1998 We compared the results of strabismus surgery using adjustable and non-adjustable hang-back muscle recessions in 38 patients having concomitant exotropia.
Mohan Kanwar, Ram Jagat, Sharma Ashok
doaj
The prevalence of strabismus types in strabismic Iranian patients
, 2018 Masoud Khorrami-Nejad,1 Mohamad Reza Akbari,2 Bahram Khosravi1 1Department of Optometry, Faculty of Rehabilitation, Shahid Beheshti University of Medical Sciences, Tehran, Iran; 2Eye Research Center, Farabi Eye Hospital, Tehran University of Medical ...
Khosravi B, Khorrami-Nejad M, Akbari MR
core