Browsing by Keyword : Whole exome sequencing

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Showing results 1 to 5 of 5

Pub YearTitleAuthor(s)
2021Genetic confirmation and identification of novel variants for glanzmann thrombasthenia and other inherited platelet function disorders: A study by the Korean Pediatric Hematology Oncology Group (KPHOG)최영배
2020Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing금창대, 노정기, 이해상, 정선용, 정재연, 황진순
2018Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics장정훈, 정연훈
2019SEQprocess: A modularized and customizable pipeline framework for NGS processing in R package주태운
2019SEQprocess: a modularized and customizable pipeline framework for NGS processing in R package우현구, 최지혜
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