[카테고리:] 논문 (Publication)

Primary ciliary dyskinesia in Egypt: First report of cilia ultrastructural defects and novel genetic variants

1월 6, 2026

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Yeonho Kang

안 논문 (Publication)
ELMO2-related Intraosseous Vascular Malformation: Report of four new cases with novel pathogenic variants, clinical follow-up and therapeutic approaches

1월 6, 2026

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Yeonho Kang

안 논문 (Publication)
Three siblings with giant axonal neuropathy caused by a novel variant in GAN gene: the first report from Egypt

1월 6, 2026

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Yeonho Kang

안 논문 (Publication)
Identification of recurrent MYH7 variant hypertrophic cardiomyopathy patients in Korea: a case series

1월 6, 2026

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Yeonho Kang

안 논문 (Publication)
EIPR1 variants cause a neurodevelopmental disorder with endolysosomal and dense core vesicle defects

1월 6, 2026

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Yeonho Kang

안 논문 (Publication)
From Severe Neonatal Encephalopathy to Slowly Neurologic Progressive Disease: Pyruvate Dehydrogenase Deficiency Related to PDHA1 Variant

1월 6, 2026

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Yeonho Kang

안 논문 (Publication)
First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2

12월 18, 2025

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Yeonho Kang

안 논문 (Publication)
Clinical utility of genome sequencing in rare diseases: lessons from a single-center study of 1,452 Korean families

12월 18, 2025

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Yeonho Kang

안 논문 (Publication)
The importance and clinical utility of reanalysis of exome and genome sequencing data

12월 18, 2025

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Yeonho Kang

안 논문 (Publication)
NAXD Encephalopathy Mimicking Neuroinflammatory Disease

12월 18, 2025

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Yeonho Kang

안 논문 (Publication)