Search Results - Beom Hee Lee

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  1. 1
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    Clinical Genetic Testing in Children with Kidney Disease by Eungu Kang, Beom Hee Lee

    Published 2021
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  2. 2
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    Neurofibromatosis type I: points to be considered by general pediatricians by Eungu Kang, Hee Mang Yoon, Beom Hee Lee

    Published 2021
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  3. 3
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    Adrenal Cortical Neoplasm with Uncertain Malignant Potential Arising in the Heterotopic Adrenal Cortex in the Liver of a Patient with Beckwith-Wiedemann Syndrome by Eun Na Kim, Dong Eun Song, Hee Mang Yoon, Beom Hee Lee, Chong Jai Kim

    Published 2019
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  4. 4
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    Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta by Yunha Choi, Soojin Hwang, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo, Jin-Ho Choi

    Published 2022
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  5. 5
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    Two cases of chronic pancreatitis associated with anomalous pancreaticobiliary ductal union and mutation by Eun Sam Rho, Earl Kim, Hong Koh, Han-Wook Yoo, Beom Hee Lee, Gu-Hwan Kim

    Published 2013
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  6. 6
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    Diabetes mellitus caused by secondary hemochromatosis after multiple blood transfusions in 2 patients with severe aplastic anemia by Hyun Jin Kim, Yoon-Myung Kim, Eungu Kang, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo

    Published 2017
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  7. 7
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    Mutation Spectrum of STAR and the Founder Effect of p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia by Eungu Kang, Yoon-Myung Kim, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo, Jin-Ho Choi

    Published 2017
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  8. 8
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    Long-term clinical outcome and the identification of homozygous gene mutations in a patient with vitamin D hydroxylation-deficient rickets type 1A by Ja Hyang Cho, Eungu Kang, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo

    Published 2016
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  9. 9
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    Chronic intermittent form of isovaleric aciduria in a 2-year-old boy by Jin Min Cho, Beom Hee Lee, Gu-Hwan Kim, Yoo-Mi Kim, Jin-Ho Choi, Han-Wook Yoo

    Published 2013
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  10. 10
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    Long-term efficacy of recombinant human growth hormone therapy in short-statured patients with Noonan syndrome by Insook Jeong, Eungu Kang, Ja Hyang Cho, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo

    Published 2016
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  11. 11
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    Turner syndrome with primary hyperparathyroidism by Jungmee Park, Yoo-Mi Kim, Jin-Ho Choi, Beom Hee Lee, Jong Ho Yoon, Woon-Young Jeong, Han-Wook Yoo

    Published 2013
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  12. 12
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    A Novel COL4A1 Mutation in a Neonate with Intrauterine Intraventricular Hemorrhage and Porencephaly by Jihyun Noh, Euiseok Jung, Ah Young Jung, Beom Hee Lee, Byong Sop Lee, Ellen Ai-Rhan Kim, Ki-Soo Kim

    Published 2020
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  13. 13
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    Clinical and genetic characteristics of Gaucher disease according to phenotypic subgroups by Ju-Young Lee, Beom Hee Lee, Gu-Hwan Kim, Chang-Woo Jung, Jin Lee, Jin-Ho Choi, Han-Wook Yoo

    Published 2012
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  14. 14
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    Lowe syndrome: a single center's experience in Korea by Hyun-Kyung Kim, Ja Hye Kim, Yoo-Mi Kim, Gu-Hwan Kim, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo

    Published 2014
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  15. 15
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    Campomelic Dysplasia with Sex Reversal Harboring a Novel Frameshift Mutation by Ha Na Lee, Chae Young Kim, Euiseok Jung, Beom Hee Lee, Byong Sop Lee, Ellen Ai Rhan Kim, Ki-Soo Kim

    Published 2020
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  16. 16
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    Exploring novel MYH7 gene variants using in silico analyses in Korean patients with cardiomyopathy by Oc-Hee Kim, Jihyun Kim, Youngjun Kim, Soyoung Lee, Beom Hee Lee, Bong-Jo Kim, Hyun-Young Park, Mi-Hyun Park

    Published 2024
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  17. 17
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    Therapeutic gene correction for Lesch-Nyhan syndrome using CRISPR-mediated base and prime editing by Gayoung Jang, Ha Rim Shin, Hyo-Sang Do, Jiyeon Kweon, Soojin Hwang, Soyoung Kim, Sun Hee Heo, Yongsub Kim, Beom Hee Lee

    Published 2023
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  18. 18
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    Endocrine dysfunctions in children with Williams-Beuren syndrome by Yoon-Myung Kim, Ja Hyang Cho, Eungu Kang, Gu-Hwan Kim, Eul-Ju Seo, Beom Hee Lee, Jin-Ho Choi, Han-Wook Yoo

    Published 2016
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  19. 19
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    Turner syndrome presented with tall stature due to overdosage of the gene by Go Hun Seo, Eungu Kang, Ja Hyang Cho, Beom Hee Lee, Jin-Ho Choi, Gu-Hwan Kim, Eul-Ju Seo, Han-Wook Yoo

    Published 2015
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  20. 20
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    Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening by Eungu Kang, Yoon-Myung Kim, Minji Kang, Sun-Hee Heo, Gu-Hwan Kim, In-Hee Choi, Jin-Ho Choi, Han-Wook Yoo, Beom Hee Lee

    Published 2018
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