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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)
Phenotypic and Molecular Spectrum of Patients With Switch/sucrose Nonfermenting Complex-related Intellectual Disabilities in Korea

7월 2, 2024

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안 논문 (Publication)
Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study

7월 2, 2024

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안 논문 (Publication)
Ultra-rare renal diseases diagnosed with whole exome sequencing: Utility in diagnosis and management

7월 2, 2024

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안 논문 (Publication)
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort

7월 2, 2024

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안 논문 (Publication)
High Prevalence of Genetic Alterations in Infantile-Onset Cardiomyopathy

7월 2, 2024

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안 논문 (Publication)
Empty Sella Syndrome Associated with Growth Hormone Deficiency: The First Case Report of Weiss-Kruszka Syndrome.

7월 2, 2024

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안 논문 (Publication)