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CRISPR technology in human diseases
Q Feng, Q Li, H Zhou, Z Wang, C Lin, Z Jiang, T Liu… - MedComm, 2024 - Wiley Online Library
Gene editing is a growing gene engineering technique that allows accurate editing of a
broad spectrum of gene‐regulated diseases to achieve curative treatment and also has the …
broad spectrum of gene‐regulated diseases to achieve curative treatment and also has the …
Molecular Mechanisms Governing Sight Loss in Inherited Cone Disorders
C Brotherton, R Megaw - Genes, 2024 - mdpi.com
Inherited cone disorders (ICDs) are a heterogeneous sub-group of inherited retinal
disorders (IRDs), the leading cause of sight loss in children and working-age adults. ICDs …
disorders (IRDs), the leading cause of sight loss in children and working-age adults. ICDs …
Quantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3000 Inherited Retinal Disease Patients from the United …
Purpose To quantify relevant fundus autofluorescence (FAF) image features cross-
sectionally and longitudinally in a large cohort of inherited retinal diseases (IRDs) patients …
sectionally and longitudinally in a large cohort of inherited retinal diseases (IRDs) patients …
[HTML][HTML] Gene Therapy for Achromatopsia
MF Baxter, GA Borchert - International Journal of Molecular Sciences, 2024 - mdpi.com
Achromatopsia is the most common cone dysfunction syndrome, affecting 1 in 30,000
people. It is an autosomal recessive disorder with a heterogeneous genetic background with …
people. It is an autosomal recessive disorder with a heterogeneous genetic background with …
Syndromic Retinitis Pigmentosa
JS Karuntu, H Almushattat, AS Plomp… - Progress in Retinal and …, 2024 - Elsevier
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the
degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30 …
degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30 …
Retinal Imaging Findings in Inherited Retinal Diseases
Inherited retinal diseases (IRDs) represent one of the major causes of progressive and
irreversible vision loss in the working-age population. Over the last few decades, advances …
irreversible vision loss in the working-age population. Over the last few decades, advances …
[HTML][HTML] Near-infrared autofluorescence: early detection of retinal pigment epithelial alterations in inherited retinal dystrophies
S Kellner, S Weinitz, G Farmand, U Kellner - Journal of Clinical Medicine, 2024 - mdpi.com
Near-infrared autofluorescence (NIA) is a non-invasive retinal imaging technique used to
examine the retinal pigment epithelium (RPE) based on the autofluorescence of melanin …
examine the retinal pigment epithelium (RPE) based on the autofluorescence of melanin …
Relationship between the full‐field stimulus test and self‐reported visual function in patients with retinitis pigmentosa: REPEAT Study report No. 3
JS Karuntu, S Tulp, CJF Boon - Acta Ophthalmologica, 2024 - Wiley Online Library
Purpose To determine the relationship between the full‐field stimulus test (FST) and self‐
reported visual function using the Michigan Retinal Degeneration Questionnaire (MRDQ) in …
reported visual function using the Michigan Retinal Degeneration Questionnaire (MRDQ) in …
Pentosan polysulfate sodium maculopathy: Final analysis of a prospective cohort, updated review, and association with inflammatory bowel disease
Pentosan polysulfate sodium (PPS) maculopathy is a recently described condition of
macular toxicity. We report the prevalence (15%), the clinical characteristics, and the …
macular toxicity. We report the prevalence (15%), the clinical characteristics, and the …
Applications of artificial intelligence to inherited retinal diseases: A systematic review
Artificial intelligence (AI)-based methods have been extensively used for the detection and
management of various common retinal conditions, but their targeted development for …
management of various common retinal conditions, but their targeted development for …