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Author/Creator Choi, In Hee

1. Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature. Issue 11 (13th October 2020)

Authors:
Kang, Eungu; Kang, Minji; Ju, Younghee; Lee, Sang-Joon; Lee, Yong-Seok; Woo, Dong-Cheol; Sung, Young Hoon; Baek, In-Jeoung; Shim, Woo Hyun; Son, Woo-Chan; Choi, In Hee; Seo, Eul-Ju; Yoo, Han-Wook; Han, Yong-Mahn; Lee, Beom Hee
Journal:
Journal of medical genetics
Issue:
Volume 58:Issue 11(2021)
Page Start:
767
Record Type:
Journal Article
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3. Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia. Issue 51 (18th December 2020)

Authors:
Ahn, Hyunji; Seo, Go Hun; Oh, Arum; Lee, Yena; Keum, Changwon; Heo, Sun Hee; Kim, Taeho; Choi, Jeongmin; Kim, Gu-Hwan; Ko, Tae-Sung; Yum, Mi-Sun; Lee, Beom Hee; Choi, In Hee
Other Names:
Ghafar. Muhammad Tarek Abdel section editor.
Journal:
Medicine
Issue:
Volume 99:Issue 51(2020)
Page Start:
Record Type:
Journal Article
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4. Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE. Issue 6 (17th September 2020)

Authors:
Seo, Go Hun; Kim, Taeho; Choi, In Hee; Park, Jung‐young; Lee, Jungsul; Kim, Sehwan; Won, Dhong‐gun; Oh, Arum; Lee, Yena; Choi, Jeongmin; Lee, Hajeong; Kang, Hee Gyung; Cho, Hee Yeon; Cho, Min Hyun; Kim, Yoon Jeon; Yoon, Young Hee; Eun, Baik‐Lin; Desnick, Robert J.; Keum, Changwon; Lee, Beom Hee
Journal:
Clinical genetics
Issue:
Volume 98:Issue 6(2020)
Page Start:
562
Record Type:
Journal Article
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6. Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases. Issue 28 (15th July 2022)

Authors:
Choi, In Hee; Seo, Go Hun; Park, JeongYun; Kim, Yoon-Myung; Cheon, Chong Kun; Kim, Yoo-Mi; Oh, Arum; Byeon, Jung Hye; Kang, Eungu; Shin, Young-Lim; Lee, Ji Eun; Kim, Su Jin; Yu, Hee Joon; Kim, Woo Jin; Choi, Byung Yoon; Kim, Bong Jik; Kim, Young Ho; Im, Gi Jung; Lee, Hyo-Jeong; Kim, Hyun Ji
Journal:
Medicine
Issue:
Volume 101:Issue 28(2022)
Page Start:
e29424
Record Type:
Journal Article
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7. Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases. Issue 28 (15th July 2022)

Authors:
Choi, In Hee; Seo, Go Hun; Park, JeongYun; Kim, Yoon-Myung; Cheon, Chong Kun; Kim, Yoo-Mi; Oh, Arum; Byeon, Jung Hye; Kang, Eungu; Shin, Young-Lim; Lee, Ji Eun; Kim, Su Jin; Yu, Hee Joon; Kim, Woo Jin; Choi, Byung Yoon; Kim, Bong Jik; Kim, Young Ho; Im, Gi Jung; Lee, Hyo-Jeong; Kim, Hyun Ji
Journal:
Medicine
Issue:
Volume 101:Issue 28(2022)
Page Start:
e29424
Record Type:
Journal Article
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8. Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease. Issue 5 (20th May 2022)

Authors:
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
Journal:
Clinical and translational medicine
Issue:
Volume 12:Issue 5(2022)
Page Start:
n/a
Record Type:
Journal Article
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9. KBG syndrome: Clinical features and molecular findings in seven unrelated Korean families with a review of the literature. Issue 4 (23rd December 2022)

Authors:
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
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 11:Issue 4(2023)
Page Start:
n/a
Record Type:
Journal Article
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