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Showing results 1 to 11 of 11

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Issue Date	Title	Journal Title
2017	Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome	JAMA OPHTHALMOLOGY
2020	Copy Number Variations and Multiallelic Variants in Korean Patients With Leber Congenital Amaurosis	MOLECULAR VISION
2017	Diagnostic application of clinical exome sequencing in Leber congenital amaurosis	MOLECULAR VISION
2021	DYNC2H1 variants cause Leber congenital amaurosis without syndromic features	CLINICAL GENETICS
2022	Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy	FRONTIERS IN NEUROLOGY
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
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
2020	SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization	HUMAN MOLECULAR GENETICS
2021	TUBB3 M323V Syndrome Presents with Infantile Nystagmus	GENES