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Rapid Targeted Genomic Testing: A Powerful Tool for Diagnostic Evaluation of Critically Ill Neonates and Infants With Suspected Genetic Diseases
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참고문헌 (14)
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- Zhong Yiming, "Application of Next Generation Sequencing in Laboratory Medicine", Annals of Laboratory Medicine, 41(1), pp.25~43 (2021), 대한진단검사의학회[DOI]
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- Ross LF, "Ethical issues in newborn sequencing research : the case study of BabySeq", Pediatrics, 144, pp.e20191031~ (2019)
- Kim Man Jin, "Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases", Annals of Laboratory Medicine, 43(3), pp.280~289 (2023), 대한진단검사의학회[DOI]
관련 논문AI추천
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases고정민, 성문우, 채종희, Choi Wooyong, Jung Ju Yeol, Kang Sanggoo, Kim Man Jin, Kim Soo Yeon, Kim Taehyung, Lee Jin Sook, Park Lae-Jeong, Park Sung Sup대한진단검사의학회 · Annals of Laboratory Medicine2023 · 제43권 제3호Recent Advances in the Clinical Application of Next-Generation SequencingChang-Seok Ki대한소아소화기영양학회 · Pediatric Gastroenterology, Hepatology & Nutrition2021 · 제24권 제1호A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases고정민, 김윤정, 김종원, 남성혁, 박경선, 박인호, 이경아, 이순민, 채현욱연세대학교의과대학 · Yonsei Medical Journal2018 · 제59권 제5호Navigating the landscape of clinical genetic testing: insights and challenges in rare disease diagnosticsKim Soo Yeon대한소아신장학회 · Childhood Kidney Diseases2024 · 제28권 제1호Whole-genome Sequencing Reveals a Novel Structural Variant of CCDC39 in a Term Neonate with Primary Ciliary Dyskinesia김현호, Kim Jin Kyu, Lee Sae-Mi, Shin Jun Hee대한진단검사의학회 · Annals of Laboratory Medicine2022 · 제42권 제4호Commentary on "Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience"Jin Hye Young대한소아내분비학회 · Annals of Pediatric Endocrinology & Metabolism2024 · 제29권 제1호
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