Results 291 to 300 of about 19,152,486 (344)

Deep perifoveal vessel density as an indicator of capillary loss in high myopia

open access: yesEye, 2019
D. Cheng   +10 more
semanticscholar   +1 more source

Revealing Molecular Diagnosis With Whole Exome Sequencing in Patients With Inherited Retinal Disorders

open access: yesClinical Genetics, EarlyView.
Inherited retinal diseases (IRDs) are a leading cause of vision loss, with an incidence of 1:2000. In this study of 50 Turkish patients, next‐generation sequencing identified pathogenic variants in 58%, including novel variants in six genes. This research enhances genetic understanding and supports improved diagnostics and treatments for IRDs ...
Cuneyd Yavas   +7 more
wiley   +1 more source

Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome

open access: yesClinical Genetics, EarlyView.
Early‐onset Marfan syndrome (eoMFS) is a rare disorder with atrioventricular valve insufficiency being the most severe symptom. We propose to regard eoMFS as a spectrum, ranging from a severe disorder life‐threatening already before or immediately after birth, to a disorder with a better survival rate, creating a window for atrioventricular valve ...
Eva C. van der Leest   +12 more
wiley   +1 more source

Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients

open access: yesClinical Genetics, EarlyView.
This study presents the deep phenotyping data of 14 new Aarskog‐Scott syndrome patients with molecular confirmation. ABSTRACT Aarskog‐Scott syndrome (AAS, MIM#305400) is an X‐linked disorder characterized by recognizable facial features, short stature, and genitourinary and skeletal malformations.
Gozde Tutku Turgut   +7 more
wiley   +1 more source

Genetic analysis of axial length genes in high grade myopia from Indian population

open access: hybrid, 2014
Ferdinamarie Sharmila   +5 more
openalex   +1 more source

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