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논문

쓰리빌리언의 연구 논문을 확인해보세요.

Paper Title
Exome Sequencing has a high diagnostic rate in sporadic congenital hypopituitarism and reveals novel candidate genes
Journal Name, Publication year
J Clin Endocrinol Metab, 2024
링크
https://academic.oup.com/jcem/advance-article-abstract/doi/10.1210/clinem/dgae320/7667221?redirectedFrom=fulltext&login=false
Paper Title
Inherited CARD9 Deficiency Due to a Founder Effect in East Asia
Journal Name, Publication year
J Clin Immunol, 2024
링크
https://link.springer.com/article/10.1007/s10875-024-01724-7
Paper Title
How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype
Journal Name, Publication year
Eur J Med Genet, 2024
링크
https://www.sciencedirect.com/science/article/pii/S1769721224000363?via%3Dihub
Paper Title
Cross-Sectional Analysis of Exome Sequencing Diagnosis in Patients With Neurologic Phenotypes Facing Barriers to Clinical Testing
Journal Name, Publication year
Neurology genetics, 2024
링크
https://www.neurology.org/doi/10.1212/NXG.0000000000200133
Paper Title
Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature
Journal Name, Publication year
Mol Genet Genomic Med, 2024
링크
https://onlinelibrary.wiley.com/doi/10.1002/mgg3.2430
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