Results 101 to 110 of about 214,123 (285)
Uncovering the Genetic Landscape of Pediatric Hearing Loss Along the Texas–Mexico Border
Clinical Genetics, EarlyView.Project GIVE provided evaluations and genome sequencing to 23 children with hearing loss along the Texas–Mexico border. Seventy percent received a molecular diagnosis and 56% of those diagnosed had changes to medical management. In this region, underdiagnosis of genetic hearing loss is due to care barriers rather than lower genetic burden.
Desiree Lanehart +17 more
wiley +1 more source
, 2016 The role played by the extraocular muscles (EOMs) in the pathogenesis of strabismus is not yet completely clarified. The commonest theory of the pathogenesis of strabismus supposes that most strabismus results from abnormal innervation of the ...
SCHIAVI, COSTANTINO
core +1 more source
Self-Reported Findings of the Korean Intermittent Exotropia Multicenter Study Questionnaire [PDF]
Purpose: To determine subjective symptoms and medical history of patients with intermittent exotropia in a large study population. Methods: The Korean Intermittent Exotropia Multicenter Study (KIEMS) is a nationwide, observational, cross-sectional ...
Gye, HJ +7 more
core +1 more source
Surviving Males With PORCN Variants: Expanding the Clinical, Molecular, and Mechanistic Spectrum
Clinical Genetics, EarlyView.Pathogenic PORCN variants are compatible with male survival in both mosaic and non‐mosaic states, expanding the FDH/PONGOS spectrum and improving diagnosis and genetic counseling. ABSTRACT Pathogenic variants in PORCN cause focal dermal hypoplasia (FDH/Goltz syndrome), an X‐linked dominant disorder historically considered lethal in males, with milder ...
Lucía Miranda‐Alcaraz +23 more
wiley +1 more source
CONCOMITANT STRABISMUS AND HETEROPHORIA [PDF]
American Journal of Optometry, 1928 openaire +2 more sources
Progressive Restrictive Strabismus Acquired in Infancy
, 2009 The authors present three cases of severely restricted motility and large angle strabismus acquired rapidly during the first months of life in otherwise normal children who had normal eye alignment and movements at birth.
王藹侯, WANG, AI-HOU
core
Strabismus Surgery in Patients with Low Vision
, 2013 Purpose: To evaluate the outcomes of horizontal strabismus surgery in patients with low visual acuity. Material and Method: The patients with visual acuity of 0.1 or below who underwent strabismus surgery were included in the study.
Nazife Sefi Yurdakul
core +1 more source
Deep Phenotyping in ReNU Syndrome Identifies a Recognizable Age‐Dependent Clinical Trajectory
Clinical Genetics, EarlyView.Longitudinal evaluation of 11 individuals with ReNU syndrome revealed an age‐dependent multisystem trajectory. This longitudinal description may help clinicians anticipate changing needs in feeding, growth, neurological, visual, communication, behavioral, and orthopedic care. ABSTRACT Pathogenic variants in the noncoding gene RNU4‐2 cause ReNU syndrome,
Nadja Pekkola Pacheco +14 more
wiley +1 more source
Effect of Botulinum Toxin A Chemodnervation in Sensory Strabismus
, 2001 To study the effect of botulinum toxin type A chemodenervation in sensory strabismus. Twelve patients with sensory strabismus were treated with an injection of botulinum toxin type A (Botox; Allergan, Irvine, Calif).
이종복
core
, 2002 The immature visual system is vulnerable to adverse events. Periventricular leukomalacia (PVL), an end-stage lesion after hypoxia-ischemia at gestational age 24-34 weeks affecting the visual radiation, has become a principal cause of visual impairment in
Ygge, J, +3 more
core +1 more source