[카테고리:] 논문 (Publication)

Phenotypic and Genetic Complexity in Pediatric Movement Disorders

7월 2, 2024

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안 논문 (Publication)
Undiagnosed disease program in South Africa: Results from first 100 exomes

7월 2, 2024

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안 논문 (Publication)
PTPN23 Neurodevelopmental Disorder Presenting With Optic Atrophy and Spasmus Nutans–Like Nystagmus

7월 2, 2024

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안 논문 (Publication)
Photoreceptor Manifestations of Primary Mitochondrial Optic Nerve Disorders

7월 2, 2024

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안 논문 (Publication)
Major Contribution of GREB1L Alterations to Severe Inner Ear Malformation Largely in a Non-Mendelian Fashion

7월 2, 2024

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안 논문 (Publication)
Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14

7월 2, 2024

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안 논문 (Publication)
Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation

7월 2, 2024

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안 논문 (Publication)
A homozygous in-frame duplication within the LRRCT consensus sequence of CFAP410 causes cone-rod dystrophy, macular staphyloma and short stature

7월 2, 2024

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안 논문 (Publication)
Hypomagnesemia and seizures in a patient with an SOS1 mutation

7월 2, 2024

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안 논문 (Publication)
Compound heterozygote between point mutation and chromosomal microdeletion involving OTUD6B coinciding with ZMIZ1 variant in syndromic intellectual disability

7월 2, 2024

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안 논문 (Publication)