[카테고리:] 논문 (Publication)

Case Report: The first Korean familial case of BCAP31-related deafness, dystonia, and cerebral hypomyelination

2월 28, 2025

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In vivo consequences of varying degrees of OTOA alteration elucidated using knock-in mouse models and pseudogene contamination-free long-read sequencing

1월 31, 2025

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안 논문 (Publication)
Exome sequencing of 18,994 ethnically diverse patients with suspected rare Mendelian disorders

1월 31, 2025

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안 논문 (Publication)
A Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy

1월 31, 2025

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안 논문 (Publication)
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder

1월 31, 2025

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ELMO2-related intraosseous vascular malformation: new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches

12월 11, 2024

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안 논문 (Publication)
The possible association of two novel heterozygous GNB1 variants with obesity and metabolic disorders

12월 11, 2024

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안 논문 (Publication)
Secondary findings in 443 exome sequencing data

12월 11, 2024

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Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management

11월 8, 2024

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안 논문 (Publication)
Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant

10월 31, 2024

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안 논문 (Publication)