[카테고리:] 논문 (Publication)

Phenotypic and Molecular Spectrum of Patients With Switch/sucrose Nonfermenting Complex-related Intellectual Disabilities in Korea

7월 2, 2024

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안 논문 (Publication)
Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study

7월 2, 2024

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안 논문 (Publication)
Ultra-rare renal diseases diagnosed with whole exome sequencing: Utility in diagnosis and management

7월 2, 2024

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안 논문 (Publication)
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort

7월 2, 2024

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안 논문 (Publication)
High Prevalence of Genetic Alterations in Infantile-Onset Cardiomyopathy

7월 2, 2024

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안 논문 (Publication)
Empty Sella Syndrome Associated with Growth Hormone Deficiency: The First Case Report of Weiss-Kruszka Syndrome.

7월 2, 2024

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안 논문 (Publication)
Quality threshold evaluation of Sanger confirmation for results of whole exome sequencing in clinically diagnostic setting

7월 2, 2024

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안 논문 (Publication)
Hypotonia, Ataxia, and Delayed Development Syndrome caused by the EBF3 mutation in a Korean boy with muscle hypotonia

7월 2, 2024

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안 논문 (Publication)
An A627V activating mutation in the thyroid stimulating hormone receptor gene in a patient with familial non-autoimmune hyperthyroidism

7월 2, 2024

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안 논문 (Publication)
Diagnosis of Schaaf-Yang syndrome in children with developmental delay by exome sequencing

7월 2, 2024

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안 논문 (Publication)