Search Results - "Jang, JaHyun"

A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling by Kim, Da Hyeon, Yang, Misun, Jo, Heui Seung, Park, JongHo, Jang, JaHyun, Shin, Sunghwan, Son, SeHyung

“…Branchiootorenal (BOR) syndrome is a rare autosomal dominant inherited disease with a prevalence of approximately 1 in 40,000 newborns. This disease is…”
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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 by 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

“…To analyze the characteristics of somatic mutations and copy number alterations (CNAs) in Korean patients with advanced prostate cancer (PCa) by use of the…”
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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 by 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

“…Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit…”
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First female Korean child with Coffin-Lowry syndrome: a novel variant in diagnosed by exome sequencing and a literature review by 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

“…Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit…”
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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 by Kong, Sun-Young, Cho, Eunhae, Lee, Junnam, Lim, Myong Cheol, Jang, Jahyun, Park, Boyoung, Yoon, Kyong-Ah, Kim, Young-Ho, Lee, Eun Sook

“…Purpose BRCA1&2 gene mutation test for hereditary breast ovarian syndrome (HBOC) has been conducted mostly by Sanger sequencing. Currently, the next generation…”
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A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets by Yang, Misun, Kim, Jinsup, Yang, Aram, Jang, Jahyun, Jeon, Tae Yeon, Cho, Sung Yoon, Jin, Dong-Kyu

“…X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a…”
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A novel mosaic mutation in in a Korean patient with hypophosphatemic rickets by Misun Yang, Jinsup Kim, Aram Yang, Jahyun Jang, Tae Yeon Jeon, Sung Yoon Cho, Dong-Kyu Jin

“…X-linked hypophosphatemic rickets is caused by loss-of-function mutations in PHEX, which encodes a phosphate-regulating endopeptidase homolog. We report a…”
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A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling by Kim, Da Hyeon, Yang, Misun, Jo, Heui Seung, Park, JongHo, Jang, JaHyun, Shin, Sunghwan, Son, SeHyung

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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 by 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

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