[카테고리:] 논문 (Publication)

A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia

7월 2, 2024

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안 논문 (Publication)
A novel PS4 criterion approach based on symptoms of rare diseases and in-house frequency data in a Bayesian framework

7월 2, 2024

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안 논문 (Publication)
Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes

7월 2, 2024

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안 논문 (Publication)
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia

7월 2, 2024

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안 논문 (Publication)
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype

7월 2, 2024

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안 논문 (Publication)
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing

7월 2, 2024

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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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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)