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Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature

7월 2, 2024

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안 논문 (Publication)
PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss

7월 2, 2024

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안 논문 (Publication)
A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR

7월 2, 2024

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안 논문 (Publication)
Two novel non-coding single nucleotide variants in the DNase1 hypersensitivity site of PRDM13 causing North Carolina macular dystrophy in Korea

7월 2, 2024

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안 논문 (Publication)
Familial focal segmental glomerulosclerosis associated with a WT1 gene missense mutation: A case report

7월 2, 2024

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안 논문 (Publication)
Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family

7월 2, 2024

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안 논문 (Publication)
Schinzel-Giedion syndrome: a rare cause of psychomotor delay and refractory seizures

7월 2, 2024

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안 논문 (Publication)
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

7월 2, 2024

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안 논문 (Publication)
Unveiling genetics of non-syndromic albinism using whole exome sequencing: A comprehensive study of TYR, TYRP1, OCA2 and MC1R genes in 17 families

7월 2, 2024

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안 논문 (Publication)
Biallelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome

7월 2, 2024

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안 논문 (Publication)