[카테고리:] 논문 (Publication)

Critical assessment of missense variant effect predictors on disease-relevant variant data

4월 8, 2025

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안 논문 (Publication)
Situs Inversus in an Infant With Hypomandibular Faciocranial Syndrome: Clinical Overlap With the Agnathia-Otocephaly Complex

3월 19, 2025

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Yeonho Kang

안 논문 (Publication)
Genetic variants in NHEJ1 and related DNA repair disorders: insights into phenotypic heterogeneity and links to hypoplastic myelodysplastic syndromes and familial hematological malignancies susceptibility

3월 19, 2025

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Yeonho Kang

안 논문 (Publication)
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program

3월 19, 2025

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Yeonho Kang

안 논문 (Publication)
NEUROMYODredger: Whole Exome Sequencing for the Diagnosis of Neurodevelopmental and Neuromuscular Disorders in Seven Countries

2월 28, 2025

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안 논문 (Publication)
Hereditary, non HINT1 related, axonal neuropathy with neuromyotonia

2월 28, 2025

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안 논문 (Publication)
Beyond CHD7 gene: unveiling genetic diversity in clinically suspected CHARGE syndrome

2월 28, 2025

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안 논문 (Publication)
Transcript Long-Read Sequencing Unveils the Molecular Complexity of a Novel ROGDI Splicing Variant in a Tunisian Family With Kohlschütter-Tönz Syndrome

2월 28, 2025

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안 논문 (Publication)
Corneal Myofibromatous and Pterygium-Like Changes in a Family With a PDGFRB Variant

2월 28, 2025

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안 논문 (Publication)
Evaluating predictors of kinase activity of STK11 variants identified in primary human non-small cell lung cancers

2월 28, 2025

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안 논문 (Publication)