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Employment (1)

Kangbuk Samsung Hospital: Seoul, KR

2024-03-01 to present
Employment
Source: Self-asserted source
JI-HEE YOON

Works (10)

A 10‐year follow‐up of high‐dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease

American Journal of Hematology
2024-07 | Journal article
DOI: 10.1002/ajh.27302
Contributors: Soojin Hwang; Hyunwoo Bae; Ji‐Hee Yoon; Dohyung Kim; Hyo‐Sang Do; Sun Hee Heo; Soyoung Kim; Han‐Wook Yoo; Majdolen Istaiti; Ari Zimran et al.
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Crossref

Clinical and molecular characteristics of Korean patients with Kabuki syndrome

Journal of Human Genetics
2024-06-01 | Journal article
DOI: 10.1038/s10038-024-01258-1
Part of ISSN: 1434-5161
Part of ISSN: 1435-232X
Contributors: Ji-Hee Yoon; Soojin Hwang; Hyunwoo Bae; Dohyung Kim; Go Hun Seo; June-Young Koh; Young Seok Ju; Hyo-Sang Do; Soyoung Kim; Gu-Hwan Kim et al.
Source: Self-asserted source
JI-HEE YOON

Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature

Molecular Genetics & Genomic Medicine
2024-04 | Journal article
DOI: 10.1002/mgg3.2430
Contributors: Jun Hee Cho; Soojin Hwang; Yoon Hae Kwak; Mi‐Sun Yum; Go Hun Seo; June‐Young Koh; Young Seok Ju; Ji‐Hee Yoon; Minji Kang; Hyo‐Sang Do et al.
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Crossref

Long-term endocrine sequelae after hematopoietic stem cell transplantation in children and adolescents

Annals of Pediatric Endocrinology & Metabolism
2024-04-30 | Journal article
DOI: 10.6065/apem.2346046.023
Contributors: Soojin Hwang; Yena Lee; Ji-Hee Yoon; Ja Hye Kim; Hyery Kim; Kyung-Nam Koh; Ho Joon Im; Han-Wook Yoo; Jin-Ho Choi
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Crossref

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene

Annals of Pediatric Endocrinology & Metabolism
2024-02-29 | Journal article
DOI: 10.6065/apem.2346014.007
Contributors: Ji-Hee Yoon; Soojin Hwang; Ja Hye Kim; Gu-Hwan Kim; Han-Wook Yoo; Jin-Ho Choi
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Crossref

Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family

Molecular Genetics & Genomic Medicine
2024-01-24 | Journal article
DOI: 10.1002/mgg3.2330
Part of ISSN: 2324-9269
Part of ISSN: 2324-9269
Contributors: Seung Woo Ryu; Ji‐Hee Yoon; Dong‐wook Kim; Beomman Han; Heonjong Han; Joohyun Han; Hane Lee; Go Hun Seo; Beom Hee Lee
Source: Self-asserted source
JI-HEE YOON

Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes

Annals of Pediatric Endocrinology & Metabolism
2023-09-30 | Journal article
DOI: 10.6065/apem.2244152.076
Contributors: Nae-yun Lee; Ja Hye Kim; Ji-Hee Yoon; Soojin Hwang; Gu-Hwan Kim; Han-Wook Yoo; Jin-Ho Choi
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Crossref

Clinical Characteristics and Long-Term Outcomes of Adrenal Tumors in Children and Adolescents.

Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association
2023-07-12 | Journal article
DOI: 10.1055/a-2127-9292
PMID: 37437600
Contributors: Kim JH; Choi Y; Hwang S; Yoon JH; Kim GH; Yoo HW; Choi JH
Source: Self-asserted source
JI-HEE YOON

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

Endocrine connections
2023-04-19 | Journal article
DOI: 10.1530/ec-22-0413
PMID: 36917044
PMC: PMC10160557
Contributors: Hye Kim J; Choi Y; Hwang S; Yoon JH; Lee J; Jae Kang M; Kim GH; Yoo HW; Jin-Ho Choi
Source: Self-asserted source
JI-HEE YOON

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

Annals of Pediatric Endocrinology & Metabolism
2021-06-30 | Journal article
DOI: 10.6065/apem.2040150.075
Part of ISSN: 2287-1012
Part of ISSN: 2287-1292
Contributors: Ji-Hee Yoon; Yunha Choi; Yena Lee; Han-Wook Yoo; Jin-Ho Choi
Source: Self-asserted source
JI-HEE YOON
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