A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling
Kim, Da Hyeon, Yang, Misun, Jo, Heui Seung, Park, JongHo, Jang, JaHyun, Shin, Sunghwan, Son, SeHyung
Published in Children (Basel) (01.01.2023)
Published in Children (Basel) (01.01.2023)
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Genomic analysis of Korean patients with advanced prostate cancer by use of a comprehensive next-generation sequencing panel and low-coverage, whole-genome sequencing
Kang, Minyong, Cho, Eunhae, Jang, Jahyun, Lee, Junnam, Jeon, Youngjoo, Jeong, Byong Chang, Seo, Seong Il, Jeon, Seong Soo, Lee, Hyun Moo, Choi, Han Yong, Jeon, Hwang Gyun
Published in Investigative and clinical urology (01.07.2019)
Published in Investigative and clinical urology (01.07.2019)
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The Youngest Infant to Be Diagnosed with Autosomal Dominant Hypocalcemia Type 2 Harboring a Novel Variant of GNA11: A Case Study and Literature Review
Kwon, Eun-Jung, Kim, Min-Sun, Noh, Eu-Seon, Kim, Chi-Woo, Jang, Jahyun, Choi, Jin-Ho, Cho, Sung Yoon, Jin, Dong-Kyu
Published in Annals of clinical and laboratory science (01.05.2022)
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Published in Annals of clinical and laboratory science (01.05.2022)
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First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review
Song, Ari, Im, Minji, Kim, Min-Sun, Noh, Eu Seon, Kim, Chiwoo, Jang, Jahyun, Lee, Sae-Mi, Ki, Chang-Seok, Cho, Sung Yoon, Jin, Dong-Kyu
Published in Annals of pediatric endocrinology & metabolism (01.03.2023)
Published in Annals of pediatric endocrinology & metabolism (01.03.2023)
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Journal Article
First female Korean child with Coffin-Lowry syndrome: a novel variant in diagnosed by exome sequencing and a literature review
Ari Song, Minji Im, Min-Sun Kim, Eu Seon Noh, Chiwoo Kim, Jahyun Jang, Sae-Mi Lee, Chang-Seok Ki, Sung Yoon Cho, Dong-Kyu Jin
Published in Annals of pediatric endocrinology & metabolism (01.01.2022)
Published in Annals of pediatric endocrinology & metabolism (01.01.2022)
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Abstract P4-12-12: Next generation sequencing-based analysis of BRCA1 and BRCA2 genes: Applicability for fast diagnostics of large samples
Kong, Sun-Young, Cho, Eunhae, Lee, Junnam, Lim, Myong Cheol, Jang, Jahyun, Park, Boyoung, Yoon, Kyong-Ah, Kim, Young-Ho, Lee, Eun Sook
Published in Cancer research (Chicago, Ill.) (01.05.2015)
Published in Cancer research (Chicago, Ill.) (01.05.2015)
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A novel mosaic mutation in in a Korean patient with hypophosphatemic rickets
Misun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin
Published in Annals of pediatric endocrinology & metabolism (01.12.2018)
Published in Annals of pediatric endocrinology & metabolism (01.12.2018)
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Journal Article
A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling
Kim, Da Hyeon, Yang, Misun, Jo, Heui Seung, Park, JongHo, Jang, JaHyun, Shin, Sunghwan, Son, SeHyung
Published in Children (Basel, Switzerland) (30.12.2022)
Published in Children (Basel, Switzerland) (30.12.2022)
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First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review
Song, Ari, Im, Minji, Kim, Min-Sun, Noh, Eu Seon, Kim, Chiwoo, Jang, Jahyun, Lee, Sae-Mi, Ki, Chang-Seok, Cho, Sung Yoon, Jin, Dong-Kyu
Published in Annals of pediatric endocrinology & metabolism (01.03.2023)
Published in Annals of pediatric endocrinology & metabolism (01.03.2023)
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