Showing 1 - 20 results of 21 for search 'Ja Hyun Jang', query time: 0.08s Refine Results
  1. 1
    Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in gene

    Congenital hypothyroidism due to thyroglobulin deficiency: a case report with a novel mutation in gene by Seung Heo, Ja-Hyun Jang, Jeesuk Yu

    Published 2019
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  2. 2
    First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel variant c.118G>C p.(Glu40Gln)

    First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel variant c.118G>C p.(Glu40Gln) by Cha Gon Lee, Ja-Hyun Jang, Ji-Young Seo

    Published 2019
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  3. 3
    Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability

    Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability by Ji Yoon Han, Ja Hyun Jang, Joonhong Park, In Goo Lee

    Published 2018
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  4. 4
    Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report

    Two Novel Mutations (c.883-4_890del and c.1684C>G) of WDR62 Gene Associated With Autosomal Recessive Primary Microcephaly: A Case Report by You Gyoung Yi, You Gyoung Yi, Dong-Woo Lee, Jaewon Kim, Ja-Hyun Jang, Ja-Hyun Jang, Sae-Mi Lee, Sae-Mi Lee, Dae-Hyun Jang

    Published 2019
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  5. 5
    Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1

    Case Report: Co-occurrence of Duchenne Muscular Dystrophy and Frontometaphyseal Dysplasia 1 by Jaewon Kim, Dong-Woo Lee, Ja-Hyun Jang, Myungshin Kim, Jisook Yim, Dae-Hyun Jang

    Published 2021
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  6. 6
    Serum 5-Hydroxyindoleacetic Acid and Ratio of 5-Hydroxyindoleacetic Acid to Serotonin as Metabolomics Indicators for Acute Oxidative Stress and Inflammation in Vancomycin-Associated Acute Kidney Injury

    Serum 5-Hydroxyindoleacetic Acid and Ratio of 5-Hydroxyindoleacetic Acid to Serotonin as Metabolomics Indicators for Acute Oxidative Stress and Inflammation in Vancomycin-Associate... by Hyun-Seung Lee, Sang-Mi Kim, Ja-Hyun Jang, Hyung-Doo Park, Soo-Youn Lee

    Published 2021
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  7. 7
    Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay

    Trio-Based Whole-Exome Sequencing Identifies a De novo EFNB1 Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay by Ji Yoon Han, Hyun Jeong Kim, Ja Hyun Jang, In Goo Lee, Joonhong Park, Joonhong Park

    Published 2020
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  8. 8
    Correction to: Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report

    Correction to: Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report by Hoo Young Lee, Dae-Hyun Jang, Jae-Won Kim, Dong-Woo Lee, Ja-Hyun Jang, Joungsu Joo

    Published 2021
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  9. 9
    Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report

    Compound heterozygous variants including a novel copy number variation in a child with atypical ataxia-telangiectasia: a case report by Hoo Young Lee, Dae-Hyun Jang, Jae-Won Kim, Dong-Woo Lee, Ja-Hyun Jang, Joungsu Joo

    Published 2021
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  10. 10
    An atypical case of Noonan syndrome with mutation diagnosed by targeted exome sequencing

    An atypical case of Noonan syndrome with mutation diagnosed by targeted exome sequencing by Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin

    Published 2017
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  11. 11
    A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in gene

    A case of vitamin D hydroxylation-deficient rickets type 1A caused by 2 novel pathogenic variants in gene by You-Min Kim, Yoon-Young Jang, Ji-Eun Jeong, Hye-Jin Park, Ja-Hyun Jang, Jin-Kyung Kim

    Published 2019
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  12. 12
    Optimal Protocols and Management of Clinical and Genomic Data Collection to Assist in the Early Diagnosis and Treatment of Multiple Congenital Anomalies

    Optimal Protocols and Management of Clinical and Genomic Data Collection to Assist in the Early Diagnosis and Treatment of Multiple Congenital Anomalies by Heui Seung Jo, Misun Yang, So Yoon Ahn, Se In Sung, Won Soon Park, Ja-Hyun Jang, Yun Sil Chang

    Published 2023
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  13. 13
    A Preterm Infant with Feeding Aspiration Diagnosed with BOR Syndrome, Confirmed Case by Whole-Genome Sequencing and Structural Variant Calling

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

    Published 2022
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  14. 14
    Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue

    Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue by Hosun Bae, Min-Sun Kim, Hyojung Park, Ja-Hyun Jang, Jong-Moon Choi, Sae-Mi Lee, Sung Yoon Cho, Dong-Kyu Jin

    Published 2020
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  15. 15
    Case report: Suspecting guanine nucleotide-binding protein beta 1 mutation in dyskinetic cerebral palsy is important

    Case report: Suspecting guanine nucleotide-binding protein beta 1 mutation in dyskinetic cerebral palsy is important by Han-Byeol Choi, Yoonju Na, Jiwon Lee, Jeehun Lee, Ja-Hyun Jang, Jong-Won Kim, Jong-Won Kim, Jeong-Yi Kwon, Jeong-Yi Kwon

    Published 2023
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  16. 16
    The first Korean case with Floating-Harbor syndrome with a novel mutation diagnosed by targeted exome sequencing

    The first Korean case with Floating-Harbor syndrome with a novel mutation diagnosed by targeted exome sequencing by Eun Mi Choi, Dong Hyun Lee, Seok Jin Kang, Ye Jee Shim, Heung Sik Kim, Jun Sik Kim, Jong In Jeong, Jung-Sook Ha, Ja-Hyun Jang

    Published 2018
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  17. 17
    Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets

    Identification of a novel variant in the gene using targeted gene panel sequencing in a 24-month-old boy with hypophosphatemic rickets by Ha Young Jo, Jung Hyun Shin, Hye Young Kim, Young Mi Kim, Heirim Lee, Mi Hye Bae, Kyung Hee Park, Ja-Hyun Jang, Min Jung Kwak

    Published 2020
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  18. 18
    Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1

    Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1 by Won Kyung Kwon, Jee Ah Kim, Jong-Ho Park, Doo Ri Kim, Su Eun Park, Yae Jean Kim, Keon Hee Yoo, Ja-Hyun Jang, Eun Suk Kang

    Published 2022
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  19. 19
    Minimal deviation adenocarcinoma (adenoma malignum) of the uterine cervix: clinicopathological analysis of 17 cases

    Minimal deviation adenocarcinoma (adenoma malignum) of the uterine cervix: clinicopathological analysis of 17 cases by Min Hee Lee, Eun Soo Kim, Min Chul Choi, Jin-Hyung Heo, Ja-Hyun Jang, Sang Geun Jung, Hyun Park, Won Duk Joo, Chan Lee, Je Ho Lee

    Published 2018
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  20. 20
    Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings

    Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings by Ji Young Yang, MD, Young Bae Sohn, MD, PhD, Jin-Sung Lee, MD, PhD, Ja-Hyun Jang, MD, PhD, Eun-So Lee, MD, PhD

    Published 2017
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