THU205 A Case Of Infant With Familial-Male Limited Precocious Puberty (FMPP) Inherited From Father Due To An Activating Mutation Of The Luteinizing Hormone/Chorionic Gonadotropin R...

por Yoo, Han-Wook, Ha, Jihyun, Jung, Mo Kyung, Choi, Yunha, Yoo, Eun-Gyong
Publicado 2023

Efficacy and safety of intravenous pamidronate infusion for treating osteoporosis in children and adolescents

por Yoon, Ji-Hee, Choi, Yunha, Lee, Yena, Yoo, Han-Wook, Choi, Jin-Ho
Publicado 2021

Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center

por Kim, Ja Hye, Lee, Yena, Choi, Yunha, Kim, Gu-Hwan, Yoo, Han-Wook, Choi, Jin-Ho
Publicado 2021

Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings

por Kim, Ja Hye, Choi, Yunha, Hwang, Soojin, Kim, Gu-Hwan, Yoo, Han-Wook, Choi, Jin-Ho
Publicado 2022

Genotype-phenotype correlations and long-term efficacy of pamidronate therapy in patients with osteogenesis imperfecta

por Choi, Yunha, Hwang, Soojin, Kim, Gu-Hwan, Lee, Beom Hee, Yoo, Han-Wook, Choi, Jin-Ho
Publicado 2022

Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review

por Hwang, Soojin, Choi, Yunha, Lee, Beom Hee, Choi, Jin‐Ho, Kim, Ja Hye, Yoo, Han‐Wook
Publicado 2022

Endocrine Complications in Children and Adolescents With Non-Central Nervous System Solid Tumors

por Lee, Yena, Shin, Juhee, Choi, Yunha, Kim, Hyery, Koh, Kyung-Nam, Im, Ho Joon, Yoo, Han-Wook, Choi, Jin-Ho
Publicado 2021

Growth, puberty, and bone health in children and adolescents with inflammatory bowel disease

por Jin, Hye-Young, Lim, Jae-Sang, Lee, Yena, Choi, Yunha, Oh, Seak-Hee, Kim, Kyung-Mo, Yoo, Han-Wook, Choi, Jin-Ho
Publicado 2021

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

por Kang, Eungu, Kim, Yoon-Myung, Choi, Yunha, Lee, Yena, Kim, JunYoung, Choi, In Hee, Yoo, Han-Wook, Yoon, Hee Mang, Lee, Beom Hee
Publicado 2022

Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism

por Hye Kim, Ja, Choi, Yunha, Hwang, Soojin, Yoon, Ji-Hee, Lee, Jieun, Jae Kang, Min, Kim, Gu-Hwan, Yoo, Han-Wook, Choi, Jin-Ho
Publicado 2023

Rapidly Progressive Parkinsonism and Dementia with No Insomnia due to the PRNP D178N Mutation

por Park, Kye Won, Lee, Seung Hyun, Hwang, Yun Soo, Kim, Keon Woo, Park, Kwan Young, Kim, Mi-Jung, Lee, Yena, Choi, Yunha, Lee, Beom Hee, Chung, Sun Ju
Publicado 2021

Phenotypic and molecular spectra of patients with switch/sucrose nonfermenting complex-related intellectual disability disorders in Korea

por Lee, Yena, Choi, Yunha, Seo, Go Hun, Kim, Gu-Hwan, Keum, Changwon, Kim, Yoo-Mi, Do, Hyo-Sang, Choi, Jeongmin, Choi, In Hee, Yoo, Han-Wook, Lee, Beom Hee
Publicado 2021

A phase II, multicenter, open-label trial to evaluate the safety and efficacy of ISU303 (Agalsidase beta) in patients with Fabry disease

por Hwang, Soojin, Lee, Beom Hee, Kim, Woo-Shik, Kim, Dae-Seong, Cheon, Chong Kun, Lee, Chang Hwa, Choi, Yunha, Choi, Jin-Ho, Kim, Ja Hye, Yoo, Han-Wook
Publicado 2022

KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature

por Choi, Yunha, Choi, Jungmin, Do, Hyosang, Hwang, Soojin, Seo, Go Hun, Choi, In Hee, Keum, Changwon, Choi, Jin‐Ho, Kang, Minji, Kim, Gu‐Hwan, Yoo, Han‐Wook, Lee, Beom Hee
Publicado 2022

Clinical and genetic analyses of patients with lateralized overgrowth

por Kim, Yoon-Myung, Lee, Yena, Choi, Yunha, Choi, In Hee, Heo, Sun Hee, Choi, Jung Min, Do, Hyo-Sang, Jang, Ja-Hyun, Yum, Mi-Sun, Yoo, Han-Wook, Lee, Beom Hee
Publicado 2022

Metabolic Impacts of Discontinuation and Resumption of Recombinant Human Growth Hormone Treatment during the Transition Period in Patients with Childhood-Onset Growth Hormone Defic...

por Lee, Yun Jeong, Choi, Yunha, Yoo, Han-Wook, Lee, Young Ah, Shin, Choong Ho, Choi, Han Saem, Kim, Ho-Seong, Kim, Jae Hyun, Moon, Jung Eun, Ko, Cheol Woo, Ahn, Moon Bae, Suh, Byung-Kyu, Choi, Jin-Ho
Publicado 2022

Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease

por Kim, Eun Na, Do, Hyo‐Sang, Jeong, Hwangkyo, Kim, Taeho, Heo, Sun Hee, Kim, Yoo‐Mi, Cheon, Chong Kun, Lee, Yena, Choi, Yunha, Choi, In Hee, Choi, Jeongmin, Yoo, Han‐Wook, Kim, Chong Jai, Zimran, Ari, Kim, Kyunggon, Lee, Beom Hee
Publicado 2022

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

por Seo, Go Hun, Lee, Hane, Lee, Jungsul, Han, Heonjong, Cho, You Kyung, Kim, Minji, Choi, Yunha, Choi, Jeongmin, Choi, In Hee, Rhie, Seonkyeong, Chae, Kyu Young, Kim, Yoo-Mi, Cheon, Chong Kun, Kim, Su Jin, Lee, Jieun, Kang, Eungu, Byeon, Jung Hye, Yu, Hee Joon, Shin, Young-Lim, Oh, Arum, Kim, Woo Jin, Yum, Mi-Sun, Lee, Beom Hee, Eun, Baik-Lin
Publicado 2022