[카테고리:] 논문 (Publication)

Skewed X-chromosome Inactivation in Women with Idiopathic Intellectual Disability is Indicative of Pathogenic Variants

7월 2, 2024

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안 논문 (Publication)
A biallelic variant of DCAF13 implicated in a neuromuscular disorder in humans

7월 2, 2024

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안 논문 (Publication)
KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature

7월 2, 2024

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안 논문 (Publication)
Factors Affecting the Genetic Diagnostic Rate in Congenital Heart Disease

7월 2, 2024

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안 논문 (Publication)
Congenital Stationary Night Blindness: Clinical and Genetic Features

7월 2, 2024

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안 논문 (Publication)
Whole exome sequencing confirms molecular diagnostics of three pakhtun families with autosomal recessive epidermolysis bullosa

7월 2, 2024

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안 논문 (Publication)
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

7월 2, 2024

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안 논문 (Publication)
Evaluation of users’ level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases

7월 2, 2024

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안 논문 (Publication)
High frequency of genetic/epigenetic disorders in short stature children born with very low birth weight

7월 2, 2024

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안 논문 (Publication)
Growth hormone deficiency in a boy with Wiedemann-Steiner syndrome: A case report and review

7월 2, 2024

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안 논문 (Publication)