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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)
Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders

7월 2, 2024

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안 논문 (Publication)
환자용 샘플 리포트

6월 30, 2024

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안 리소스 (Resource)
유전자검사 동의서

6월 30, 2024

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안 리소스 (Resource)
샘플 의뢰서

6월 30, 2024

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안 리소스 (Resource)
3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints

6월 28, 2024

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안 논문 (Publication)
Clinical characteristics of genetically confirmed patients with retinitis pigmentosa associated with PDE6B mutations

6월 28, 2024

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안 논문 (Publication)