Showing 1 - 20 results of 33 for search 'Sung-Yoon Cho', query time: 0.04s Refine Results
  1. 1
    Guidelines for genetic skeletal dysplasias for pediatricians

    Guidelines for genetic skeletal dysplasias for pediatricians by Sung Yoon Cho, Dong-Kyu Jin

    Published 2015
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  2. 2
    A Korean boy with a mutation who presented with overgrowth, intellectual disability, and autism

    A Korean boy with a mutation who presented with overgrowth, intellectual disability, and autism by Chiwoo Kim, Eu-seon Noh, Sung Yoon Cho

    Published 2023
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  3. 3
    Mixed diabetic ketoacidosis and hyperglycemic hyperosmolarity in a girl with nephronophthisis 4 presenting with rhabdomyolysis and pancreatitis

    Mixed diabetic ketoacidosis and hyperglycemic hyperosmolarity in a girl with nephronophthisis 4 presenting with rhabdomyolysis and pancreatitis by Eu-Seon Noh, Chiwoo Kim, Sung Yoon Cho

    Published 2023
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  4. 4
    Prader-Willi syndrome: an update on obesity and endocrine problems

    Prader-Willi syndrome: an update on obesity and endocrine problems by Su Jin Kim, Sung Yoon Cho, Dong-Kyu Jin

    Published 2021
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  5. 5
    A Case of Mitochondrial Trifunctional Protein Deficiency with Variants Diagnosed Using Whole-Exome Sequencing

    A Case of Mitochondrial Trifunctional Protein Deficiency with Variants Diagnosed Using Whole-Exome Sequencing by Chan Kim, Dajeong Lee, Jiwon Lee, Sung Yoon Cho, Jeehun Lee

    Published 2021
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  6. 6
    Etiological trends in male central precocious puberty

    Etiological trends in male central precocious puberty by Jisun Lee, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin

    Published 2018
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  7. 7
    Elevation of serum creatine kinase during methimazole treatment of Graves disease in a 13-year-old girl and a literature review of similar cases

    Elevation of serum creatine kinase during methimazole treatment of Graves disease in a 13-year-old girl and a literature review of similar cases by Hyeseon Kim, Jinsup Kim, Rimm Huh, Sung Yoon Cho, Dong-Kyu Jin

    Published 2015
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  8. 8
    2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis

    2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis by Eun-Kyung Cho, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin

    Published 2017
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  9. 9
    Tailored management of life-threatening complications related to severe obesity in a young adult with Prader-Willi syndrome

    Tailored management of life-threatening complications related to severe obesity in a young adult with Prader-Willi syndrome by Min-Sun Kim, Jiyeon Kim, Joongbum Cho, Sung Yoon Cho, Dong-Kyu Jin

    Published 2021
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  10. 10
    A case of 18p deletion syndrome with panhypopituitarism

    A case of 18p deletion syndrome with panhypopituitarism by Aram Yang, Jinsup Kim, Sung Yoon Cho, Ji-Eun Lee, Hee-Jin Kim, Dong-Kyu Jin

    Published 2019
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  11. 11
    HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report

    HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report by Aram Yang, Jinsup Kim, Chang-Seok Ki, Sung Hwa Hong, Sung Yoon Cho, Dong-Kyu Jin

    Published 2017
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  12. 12
    A novel mosaic mutation in in a Korean patient with hypophosphatemic rickets

    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

    Published 2018
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  13. 13
    Resistance to thyroid hormone and nonfunctioning pituitary microadenoma in a 13-year-old boy with THRB mutation

    Resistance to thyroid hormone and nonfunctioning pituitary microadenoma in a 13-year-old boy with THRB mutation by Jiyeon Kim, Eu Seon Noh, Min-Sun Kim, Jong-Moon Choi, Sae-Mi Lee, Sung Yoon Cho

    Published 2024
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  14. 14
    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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  15. 15
    Compound heterozygous variants in the gene in a Korean boy with sitosterolemia

    Compound heterozygous variants in the gene in a Korean boy with sitosterolemia by Ga young Bae, Insung Kim, Juyoung Sung, JiHoon Hwang, Min-Sun Kim, Ji-Hye Park, Sung Yoon Cho

    Published 2024
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  16. 16
    Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center

    Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center by Yangho Yoo, Mi Sun Chang, Jieun Lee, Sung Yoon Cho, Sung Won Park, Dong-Kyu Jin, Hyung-Doo Park

    Published 2013
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  17. 17
    Hypertriglyceridemia with acute pancreatitis in a 14-year-old girl with diabetic ketoacidosis

    Hypertriglyceridemia with acute pancreatitis in a 14-year-old girl with diabetic ketoacidosis by Hyojung Park, Min-Sun Kim, Jiyeon Kim, Sae-Mi Lee, Sung Yoon Cho, Eun-Gyong Yoo, Dong-Kyu Jin

    Published 2022
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  18. 18
    A novel gene mutation in a Korean patient with Kabuki syndrome

    A novel gene mutation in a Korean patient with Kabuki syndrome by Soo Jin Kim, Sung Yoon Cho, Se Hyun Maeng, Young Bae Sohn, Su-Jin Kim, Chang-Seok Ki, Dong-Kyu Jin

    Published 2013
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  19. 19
    Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity

    Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity by Minji Im, Ari Song, Jiyeon Kim, Min-Sun Kim, Sae-Mi Lee, Mi Jin Kim, Sung Yoon Cho, Dong-Kyu Jin

    Published 2022
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  20. 20
    PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation?

    PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? by Piero Pavone, Giovanni. Corsello, Sung Yoon Cho, Xena Giada Pappalardo, Martino Ruggieri, Simona Domenica Marino, Dong Kyu Jin, Silvia Marino, Raffaele Falsaperla

    Published 2019
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