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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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제공
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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제공
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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제공
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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제공
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
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논문 (Publication)
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