[카테고리:] 논문 (Publication)

Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders

7월 2, 2024

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안 논문 (Publication)
3Cnet: pathogenicity prediction of human variants using multitask learning with evolutionary constraints

6월 28, 2024

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안 논문 (Publication)
Clinical characteristics of genetically confirmed patients with retinitis pigmentosa associated with PDE6B mutations

6월 28, 2024

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안 논문 (Publication)
Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the MOCS2 Gene

6월 28, 2024

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안 논문 (Publication)
A Novel Missense Mutation (L44V) of PAX2 Associated with Adult-Onset End-Stage Renal Disease and No Syndromic Features

6월 28, 2024

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안 논문 (Publication)
Clinical and molecular spectra of BRAF-associated RASopathy

6월 28, 2024

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안 논문 (Publication)
Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE

6월 28, 2024

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안 논문 (Publication)
The first Korean cases of combined oxidative phosphorylation deficiency 35 with two novel TRIT1 gene mutations in two siblings confirmed by clinical and molecular investigation

6월 28, 2024

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안 논문 (Publication)
Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome

6월 28, 2024

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안 논문 (Publication)
Rapidly progressing early puberty in a boy with bilateral basal ganglia germinoma and TREX1 variant

6월 28, 2024

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안 논문 (Publication)