[카테고리:] 논문 (Publication)

Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study

12월 18, 2025

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Yeonho Kang

안 논문 (Publication)
Novel SYK Variant Causes Enhanced SYK Autophosphorylation and PI3K Activation in an Antibody-Deficient Patient

12월 18, 2025

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Yeonho Kang

안 논문 (Publication)
Genomic Insights into Short Stature in Children Born Small for Gestational Age: A Korean Multicenter Exome Study

12월 18, 2025

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Yeonho Kang

안 논문 (Publication)
Biparental and Androgenetic Somatic Mosaicism with Presentation of Non-Syndromic Severe Neonatal Hyperinsulinemia

12월 18, 2025

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Yeonho Kang

안 논문 (Publication)
A first large study of whole-exome sequencing (WES) in 489 patients with suspected rare genetic disorders at a tertiary centre in Malaysia

7월 31, 2025

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Yeonho Kang

안 논문 (Publication)
Arginase deficiency in Mexico: Insights from the experience of a metabolic reference center

7월 31, 2025

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Yeonho Kang

안 논문 (Publication)
Clinical implementation of a multidisciplinary pipeline for genome sequencing in rare diseases: A prospective, multicenter, observational cohort study

7월 31, 2025

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Yeonho Kang

안 논문 (Publication)
Developing a disease-specific accessible transcriptional signature as a biomarker for ataxia with oculomotor apraxia type 2

7월 31, 2025

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Yeonho Kang

안 논문 (Publication)
An Update on 3M Syndrome: Review of Clinical and Molecular Aspects and Report of Additional Families

4월 21, 2025

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cms3billion

안 논문 (Publication)
Critical assessment of missense variant effect predictors on disease-relevant variant data

4월 21, 2025

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cms3billion

안 논문 (Publication)