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Showing results 6 to 15 of 15

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Issue Date	Title	Journal Title
2021	In Silico identification of a common mobile element insertion in exon 4 of RP1	SCIENTIFIC REPORTS
2019	Missed Heterozygous Deletion in Study of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome	JAMA OPHTHALMOLOGY
2023	Next-Generation Sequencing of Vitreoretinal Lymphoma by Vitreous Liquid Biopsy: Diagnostic Potential and Genotype/Phenotype Correlation	INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
2022	Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus	TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
2022	Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort	GENES
2021	Serial Detection of MYD88 L265P Mutation in the Aqueous Humor of a Patient with Vitreoretinal Lymphoma for Disease Monitoring	OCULAR IMMUNOLOGY AND INFLAMMATION
2020	SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization	HUMAN MOLECULAR GENETICS
2019	Targeted panel sequencing identifies a novel NR2F1 mutations in a patient with Bosch-Boonstra-Schaaf optic atrophy syndrome	Ophthalmic Genetics
2021	TUBB3 M323V Syndrome Presents with Infantile Nystagmus	GENES
2020	Whole exome sequencing identifies mutational signatures of vitreoretinal lymphoma	HAEMATOLOGICA