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First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review
Ari Song
, Minji Im
, Min-Sun Kim
, Eu Seon Noh
, Chiwoo Kim
, Jahyun Jang
, Sae-Mi Lee
, Chang-Seok Ki
, Sung Yoon Cho
, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2023;28(1):67-72. Published online January 18, 2022
DOI:
https://doi.org/10.6065/apem.2142134.067
Web of Science 2
Crossref 2
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Supplementary Material
Wilson disease diagnosed incidentally by targeted gene panel sequencing in a Korean boy with severe obesity
Minji Im
, Ari Song
, Jiyeon Kim
, Min-Sun Kim
, Sae-Mi Lee
, Mi Jin Kim
, Sung Yoon Cho
, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2022;27(3):229-235. Published online October 18, 2021
DOI:
https://doi.org/10.6065/apem.2142042.021
Web of Science 2
Crossref 2
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Tailored management of life-threatening complications related to severe obesity in a young adult with Prader-Willi syndrome
Min-Sun Kim
, Jiyeon Kim
, Joongbum Cho
, Sung Yoon Cho
, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2022;27(2):148-152. Published online October 18, 2021
DOI:
https://doi.org/10.6065/apem.2142022.011
Web of Science 5
Crossref 5
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Hypertriglyceridemia with acute pancreatitis in a 14-year-old girl with diabetic ketoacidosis
Hyojung Park
, Min-Sun Kim
, Jiyeon Kim
, Sae-Mi Lee
, Sung Yoon Cho
, Eun-Gyong Yoo
, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2022;27(1):73-77. Published online May 14, 2021
DOI:
https://doi.org/10.6065/apem.2040250.125
Web of Science 3
Crossref 4
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Prader-Willi syndrome: an update on obesity and endocrine problems
Su Jin Kim
, Sung Yoon Cho
, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2021;26(4):227-236. Published online December 31, 2021
DOI:
https://doi.org/10.6065/apem.2142164.082
Web of Science 14
Crossref 14
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Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue
Hosun Bae
, Min-Sun Kim
, Hyojung Park
, Ja-Hyun Jang
, Jong-Moon Choi
, Sae-Mi Lee
, Sung Yoon Cho
, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2020;25(1):46-51. Published online March 31, 2020
DOI:
https://doi.org/10.6065/apem.2020.25.1.46
Web of Science 2
Crossref 1
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A case of
de novo
18p deletion syndrome with panhypopituitarism
Aram Yang
, Jinsup Kim
, Sung Yoon Cho
, Ji-Eun Lee
, Hee-Jin Kim
, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2019;24(1):60-63. Published online March 31, 2019
DOI:
https://doi.org/10.6065/apem.2019.24.1.60
Web of Science 10
Crossref 10
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Supplementary Material
A novel
de novo
mosaic mutation in
PHEX
in a Korean patient with hypophosphatemic rickets
Misun Yang
, Jinsup Kim
, Aram Yang
, Jahyun Jang
, Tae Yeon Jeon
, Sung Yoon Cho
, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2018;23(4):229-234. Published online December 31, 2018
DOI:
https://doi.org/10.6065/apem.2018.23.4.229
Web of Science 8
Crossref 5
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De novo
a novel variant of
CaSR
gene in a neonate with congenital hypoparathyroidism
Jung-Eun Moon
, Su-Jeong Lee
, Suk-Hyun Park
, Jinsup Kim
, Dong-Kyu Jin
, Cheol Woo Ko
Ann Pediatr Endocrinol Metab.
2018;23(2):107-111. Published online June 20, 2018
DOI:
https://doi.org/10.6065/apem.2018.23.2.107
Web of Science 6
Crossref 7
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Etiological trends in male central precocious puberty
Jisun Lee
, Jinsup Kim
, Aram Yang
, Sung Yoon Cho
, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2018;23(2):75-80. Published online June 20, 2018
DOI:
https://doi.org/10.6065/apem.2018.23.2.75
Web of Science 20
Crossref 18
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An atypical case of Noonan syndrome with
KRAS
mutation diagnosed by targeted exome sequencing
Jinsup Kim
, Sung Yoon Cho
, Aram Yang
, Ja-Hyun Jang
, Youngbin Choi
, Ji-Eun Lee
, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2017;22(3):203-207. Published online September 28, 2017
DOI:
https://doi.org/10.6065/apem.2017.22.3.203
Web of Science 3
Crossref 3
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2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis
Eun-Kyung Cho, Jinsup Kim, Aram Yang, Sung Yoon Cho, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2017;22(2):129-132. Published online June 28, 2017
DOI:
https://doi.org/10.6065/apem.2017.22.2.129
Web of Science 7
Crossref 5
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Guidelines for genetic skeletal dysplasias for pediatricians
Sung Yoon Cho, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2015;20(4):187-191. Published online December 31, 2015
DOI:
https://doi.org/10.6065/apem.2015.20.4.187
Crossref 18
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Elevation of serum creatine kinase during methimazole treatment of Graves disease in a 13-year-old girl and a literature review of similar cases
Hyeseon Kim, Jinsup Kim, Rimm Huh, Sung Yoon Cho, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2015;20(2):106-109. Published online June 30, 2015
DOI:
https://doi.org/10.6065/apem.2015.20.2.106
Crossref 8
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Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion
Aram Yang, Yeon Hee Lee, Soon Young Nam, Yu Ju Jeong, Yechan Kyung, Rimm Huh, Jieun Lee, Younghee Kwun, Sung Yoon Cho, Dong-Kyu Jin
Ann Pediatr Endocrinol Metab.
2015;20(1):40-45. Published online March 31, 2015
DOI:
https://doi.org/10.6065/apem.2015.20.1.40
Crossref 2
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Supplementary Material
1
2
Journal Impact Factor 2.8
Pediatrics Q1
ABOUT
Aims and Scope
About the Journal
Editorial Board
Principles of Transparency and Best Practice
Open Access
Subscription Information
Contact us
ARTICLE CATEGORY
Original Article
Review Article
Case Report
Others
Browse all articles >
BROWSE ARTICLES
New Issue
All Issues
Accepted
Ahead-of Print
Most View
Most Download
Most Cited
Funded Articles
Author Index
AUTHOR INFORMATION
Instructions for Authors
Research and Publication Ethics
Readership
Advertising policies
Article-processing Charge
Author’s Checklist
E-Submission
Copyright Transfer Agreement