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CUTTING EDGE TRIO-WGS IN RARE GENETIC SYNDROME DIAGNOSIS

7월 2, 2024

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안 논문 (Publication)
Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms

7월 2, 2024

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안 논문 (Publication)
Combined immunodeficiency and impaired PI3K signaling in a patient with biallelic LCP2 variants

7월 2, 2024

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안 논문 (Publication)
The Impact of the IKBKG Gene on the Appearance of the Corpus Callosum Abnormalities in Incontinentia Pigmenti

7월 2, 2024

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안 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)