[카테고리:] 논문 (Publication)

Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea

7월 2, 2024

—

제공

cms3billion

안 논문 (Publication)
Clinical, radiographic and molecular characterization of two unrelated families with multicentric osteolysis, nodulosis, and arthropathy

7월 2, 2024

—

제공

cms3billion

안 논문 (Publication)
A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review

7월 2, 2024

—

제공

cms3billion

안 논문 (Publication)
Molecular and phenotypical findings of a novel de novo SYNGAP1 gene variant in an 11-year-old Iranian boy with intellectual disability

7월 2, 2024

—

제공

cms3billion

안 논문 (Publication)
Genomic analysis of multiplex consanguineous families reveals causes of neurodevelopmental disorders with epilepsy

7월 2, 2024

—

제공

cms3billion

안 논문 (Publication)
Genetic diagnosis of kidney disease by whole exome sequencing and its clinical application

7월 2, 2024

—

제공

cms3billion

안 논문 (Publication)
CUTTING EDGE TRIO-WGS IN RARE GENETIC SYNDROME DIAGNOSIS

7월 2, 2024

—

제공

cms3billion

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

—

제공

cms3billion

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

7월 2, 2024

—

제공

cms3billion

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

7월 2, 2024

—

제공

cms3billion

안 논문 (Publication)