[카테고리:] 논문 (Publication)

Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families

7월 2, 2024

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안 논문 (Publication)
Report of Hermansky–Pudlak Syndrome in Two Families with Novel Variants in HPS3 and HPS4 Genes

7월 2, 2024

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안 논문 (Publication)
Case report: novel PCDH15 variant causes usher syndrome type 1F with congenital hearing loss and syndromic retinitis pigmentosa

7월 2, 2024

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안 논문 (Publication)
CHARGE syndrome with de novo frameshift mutation in a patient with total retinal detachment and large choroidal coloboma

7월 2, 2024

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안 논문 (Publication)
A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report

7월 2, 2024

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안 논문 (Publication)
Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon

7월 2, 2024

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안 논문 (Publication)
The First Korean Family With Boucher-Neuhäuser Syndrome Carrying a Novel Mutation in PNPLA6

7월 2, 2024

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안 논문 (Publication)
The first case of novel variants of FSHR mutation causing primary amenorrhea in two siblings in Korea

7월 2, 2024

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안 논문 (Publication)
Whole exome sequencing identifies a novel compound heterozygous GFM1 variant underlying developmental delay, dystonia, polymicrogyria and severe intellectual disability in a Pakhtun family

7월 2, 2024

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안 논문 (Publication)
A sibling study of infantile cerebellar-retinal degeneration with novel compound heterozygous variants in ACO2

7월 2, 2024

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안 논문 (Publication)