Hasil Pencarian - Yunha Choi

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  1. 1
    A Missense Variation in the KDM5C Gene Associated with X-Linked Intellectual Disability, Growth Failure, and Epilepsy

    A Missense Variation in the KDM5C Gene Associated with X-Linked Intellectual Disability, Growth Failure, and Epilepsy oleh Jin A Chung, Yunha Choi, Kyu Yong Chae

    Diterbitkan 2023-01-01
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  2. 2
    Efficacy and safety of intravenous pamidronate infusion for treating osteoporosis in children and adolescents

    Efficacy and safety of intravenous pamidronate infusion for treating osteoporosis in children and adolescents oleh Ji-Hee Yoon, Yunha Choi, Yena Lee, Han-Wook Yoo, Jin-Ho Choi

    Diterbitkan 2021-06-01
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  3. 3
    Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review

    Familial male-limited precocious puberty due to an activating mutation of the LHCGR: a case report and literature review oleh Jihyun Ha, Yunha Choi, Mo Kyung Jung, Eun-Gyong Yoo, Han-Wook Yoo

    Diterbitkan 2024-02-01
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  4. 4
    Novel hematopoietic progenitor kinase 1 inhibitor KHK-6 enhances T-cell activation.

    Novel hematopoietic progenitor kinase 1 inhibitor KHK-6 enhances T-cell activation. oleh Min Jeong Ahn, Eun Hye Kim, Yunha Choi, Chong Hak Chae, Pilho Kim, Seong Hwan Kim

    Diterbitkan 2024-01-01
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  5. 5
    Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta

    Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta oleh Yunha Choi, Soojin Hwang, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo, Jin-Ho Choi

    Diterbitkan 2022-03-01
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  6. 6
    Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center

    Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center oleh Ja Hye Kim, Yena Lee, Yunha Choi, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi

    Diterbitkan 2021-03-01
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  7. 7
    Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings

    Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings oleh Ja Hye Kim, Yunha Choi, Soojin Hwang, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi

    Diterbitkan 2022-02-01
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  8. 8
    A 14-year-old male with rhabdomyolysis associated with psychogenic polydipsia and hyponatremia

    A 14-year-old male with rhabdomyolysis associated with psychogenic polydipsia and hyponatremia oleh Youn Shin Jung, Yunha Choi, Jihyun Ha, Eun-Gyong Yoo, So Hyun Paek, Mo Kyung Jung

    Diterbitkan 2023-10-01
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  9. 9
    Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review

    Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review oleh Soojin Hwang, Yunha Choi, Beom Hee Lee, Jin‐Ho Choi, Ja Hye Kim, Han‐Wook Yoo

    Diterbitkan 2023-01-01
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  10. 10
    Endocrine Complications in Children and Adolescents With Non-Central Nervous System Solid Tumors

    Endocrine Complications in Children and Adolescents With Non-Central Nervous System Solid Tumors oleh Yena Lee, Juhee Shin, Yunha Choi, Hyery Kim, Kyung-Nam Koh, Ho Joon Im, Han-Wook Yoo, Jin-Ho Choi

    Diterbitkan 2021-03-01
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  11. 11
    Growth, puberty, and bone health in children and adolescents with inflammatory bowel disease

    Growth, puberty, and bone health in children and adolescents with inflammatory bowel disease oleh Hye-Young Jin, Jae-Sang Lim, Yena Lee, Yunha Choi, Seak-Hee Oh, Kyung-Mo Kim, Han-Wook Yoo, Jin-Ho Choi

    Diterbitkan 2021-01-01
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  12. 12
    Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression

    Whole-body MRI evaluation in neurofibromatosis type 1 patients younger than 3 years old and the genetic contribution to disease progression oleh Eungu Kang, Yoon-Myung Kim, Yunha Choi, Yena Lee, JunYoung Kim, In Hee Choi, Han-Wook Yoo, Hee Mang Yoon, Beom Hee Lee

    Diterbitkan 2022-01-01
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  13. 13
    Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism

    Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism oleh Ja Hye Kim, Yunha Choi, Soojin Hwang, Ji-Hee Yoon, Jieun Lee, Min Jae Kang, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi

    Diterbitkan 2023-04-01
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  14. 14
    Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea

    Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea oleh Yena Lee, Yunha Choi, Go Hun Seo, Gu-Hwan Kim, Changwon Keum, Yoo-Mi Kim, Hyo-Sang Do, Jeongmin Choi, In Hee Choi, Han-Wook Yoo, Beom Hee Lee

    Diterbitkan 2021-10-01
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  15. 15
    KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature

    KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature oleh Yunha Choi, Jungmin Choi, Hyosang Do, Soojin Hwang, Go Hun Seo, In Hee Choi, Changwon Keum, Jin‐Ho Choi, Minji Kang, Gu‐Hwan Kim, Han‐Wook Yoo, Beom Hee Lee

    Diterbitkan 2023-04-01
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  16. 16
    Clinical and genetic analyses of patients with lateralized overgrowth

    Clinical and genetic analyses of patients with lateralized overgrowth oleh Yoon-Myung Kim, Yena Lee, Yunha Choi, In Hee Choi, Sun Hee Heo, Jung Min Choi, Hyo-Sang Do, Ja-Hyun Jang, Mi-Sun Yum, Han-Wook Yoo, Beom Hee Lee

    Diterbitkan 2022-09-01
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  17. 17
    Metabolic Impacts of Discontinuation and Resumption of Recombinant Human Growth Hormone Treatment during the Transition Period in Patients with Childhood-Onset Growth Hormone Deficiency

    Metabolic Impacts of Discontinuation and Resumption of Recombinant Human Growth Hormone Treatment during the Transition Period in Patients with Childhood-Onset Growth Hormone Defic... oleh Yun Jeong Lee, Yunha Choi, Han-Wook Yoo, Young Ah Lee, Choong Ho Shin, Han Saem Choi, Ho-Seong Kim, Jae Hyun Kim, Jung Eun Moon, Cheol Woo Ko, Moon Bae Ahn, Byung-Kyu Suh, Jin-Ho Choi

    Diterbitkan 2022-04-01
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  18. 18
    Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease

    Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease oleh Eun Na Kim, Hyo‐Sang Do, Hwangkyo Jeong, Taeho Kim, Sun Hee Heo, Yoo‐Mi Kim, Chong Kun Cheon, Yena Lee, Yunha Choi, In Hee Choi, Jeongmin Choi, Han‐Wook Yoo, Chong Jai Kim, Ari Zimran, Kyunggon Kim, Beom Hee Lee

    Diterbitkan 2022-05-01
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  19. 19
    Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

    Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay oleh Go Hun Seo, Hane Lee, Jungsul Lee, Heonjong Han, You Kyung Cho, Minji Kim, Yunha Choi, Jeongmin Choi, In Hee Choi, Seonkyeong Rhie, Kyu Young Chae, Yoo-Mi Kim, Chong Kun Cheon, Su Jin Kim, Jieun Lee, Eungu Kang, Jung Hye Byeon, Hee Joon Yu, Young-Lim Shin, Arum Oh, Woo Jin Kim, Mi-Sun Yum, Beom Hee Lee, Baik-Lin Eun

    Diterbitkan 2022-03-01
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