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Showing results 7 to 11 of 11

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Issue Date	Title	Journal Title
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