Results 121 to 130 of about 530,744 (354)
Comparison of two health related quality of life questionaires in Malay children with strabismus and their parent proxy [PDF]
, 2015 Introduction: Strabismus is an eye condition associated with cosmetic, functional and psychosocial circumstances. Evaluation of Health Related Quality of Life (HRQoL) is increasingly recognized as an important factor in strabismus management and a ...
Jin Poi, Tan
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Nabais Sá‐De Vries syndrome (NSDVS) is an extremely rare autosomal dominant disorder caused by SPOP mutations. To date, only 10 cases have been described presenting with intellectual disability, neurological signs and symptoms, and a variable association of dysmorphic features.
Jessica Galli +10 more
wiley +1 more source
Progress in Ophthalmology [PDF]
American Journal of Ophthalmology, 1899 n ...
openaire +3 more sources
Expanding the SIAH1‐Associated Phenotypic Spectrum: Insights From Loss‐of‐Function Variants
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SIAH1 encodes for a RING‐type E3 ubiquitin ligase involved in protein ubiquitination. More specifically, it positively regulates Wnt signaling through promoting the accumulation of β‐catenin and mediates ubiquitination and degradation of Akt3 in neural development.
Liza Douiev +14 more
wiley +1 more source
A Quantum Field Approach for Advancing Optical Coherence Tomography Part I: First Order Correlations, Single Photon Interference, And Quantum Noise [PDF]
arXiv, 2014 Optical coherence tomography has become an important imaging technology in cardiology and ophthalmology, with other applications under investigations. Major advances in optical coherence tomography (OCT) imaging are likely to occur through a quantum field approach to the technology.
arxiv
The Bowman Lecture on the Etiology and Educative Treatment of Convergent Strabismus: Delivered before the Ophthalmological Society of the United Kingdom on June 10th, 1898 [PDF]
, 1898 P. Smith
openalex +1 more source
Knowledge, understanding and the dynamics of medical innovation [PDF]
This paper investigates the processes by which scientific knowledge is created and legitimized. It focuses on scientific developments in a branch of medicine and explores the pathways through which the growth of knowledge enables advances in medical ...
Consoli, Davide, Ramlogan, Ronnie
core +1 more source
Costello Syndrome and Ophthalmologic Issues: Unveiling the Unseen
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Costello syndrome (CS) is an ultra‐rare condition belonging to the RASopathies, a group of disorders characterized by aberrant RAS/MAPK pathway signaling, which is involved in ocular development and in some eye pathologies. However, only a few studies assessing the ophthalmic features of individuals with CS are available.
Sofia Peschiaroli +13 more
wiley +1 more source