Results 191 to 200 of about 97,306 (377)
White–Sutton Syndrome: Insight of an Italian Cohort of 19 Subjects
Clinical Genetics, EarlyView.New insights into White–Sutton syndrome with a collection of 19 Italian patients. Due to its complexity, we stress the importance of a systematic evaluation following the diagnosis and a thoughtful management of patients. Preliminary genotype–phenotype correlation analysis suggests the association between disruptive splicing variants and more severe ...
Anna Facchini +14 more
wiley +1 more source
Biallelic COL4A2 Variants Associated With Brain Small Vessel Disease and Brain Malformations
Clinical Genetics, EarlyView.Biallelic COL4A2 variants cause a spectrum of brain abnormalities such as brain small vessel disease (BSVD). We describe two cases—one with cerebrovascular disruption and one with cortical malformations—expanding the recessive phenotype. Protein modeling reveals destabilization by p.(Arg179Cys), reinforcing its pathogenic role and highlighting collagen
Anees Muhammad +11 more
wiley +1 more source
Orthoptic Treatment of Accommodative Convergent Strabismus [PDF]
, 1958 S Mayou
openalex +1 more source
Sleep and Rhythmic Profile After Pineal Gland Removal in Humans
Journal of Sleep Research, EarlyView.ABSTRACT Melatonin, a hormone produced by the pineal gland, is classically described as a central circadian modulator. However, the impact of its absence on circadian rhythmicity in humans remains poorly understood. Pinealectomised patients, in whom melatonin secretion is chronically suppressed, represent a valuable clinical model to investigate the ...
Renata de Andrade Prado Gobetti +7 more
wiley +1 more source
SURGERY OF STRABISMUS IN THE ORTHOPTIC PLEOPTIC SECTION OF THE DEPARTMENT OF OPHTALMOLOGY
Zdravniški Vestnik, 2003 Background. Since 1996 there have been 446 patients (107 adults) operated for strabismus. This retrospective study (retrospection) indicated that out of those 107 adults 22 of them suffer from convergent concomitant strabismus, 29 from convergent ...
Marija Vukan-Rudolf
doaj
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