Publications by authors named "Arum Oh"

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Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report.
Joon Kee Lee, Arum Oh

J Korean Med Sci· November 2023

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Evaluation of users' level of satisfaction for an artificial intelligence-based diagnostic program in pediatric rare genetic diseases.
In Hee Choi, Go Hun Seo, JeongYun Park, Yoon-Myung Kim, Chong Kun Cheon, Arum Oh

Medicine (Baltimore)· July 2022

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Three pediatric patients with primary hyperparathyroidism caused by parathyroid adenoma.
Arum Oh, Yena Lee, Han-Wook Yoo, Jin-Ho Choi

Ann Pediatr Endocrinol Metab· June 2022

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Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Go Hun Seo, Hane Lee, Jungsul Lee, Heonjong Han, You Kyung Cho, Arum Oh

Mol Med· March 2022

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Unfavorable clinical outcomes in patients with carbamoyl phosphate synthetase 1 deficiency.
Yunha Choi, Arum Oh, Yena Lee, Gu-Hwan Kim, Jin-Ho Choi

Clin Chim Acta· February 2022

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A novel likely pathogenic PLCG2 variant in a patient with a recurrent skin blistering disease and B-cell lymphopenia.
Hee Sue Park, Arum Oh, Chang Won Keum, Jisu Lee, Joon Kee Lee

Eur J Med Genet· January 2022

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Functional Characteristics of Novel FGFR1 Mutations in Patients with Isolated Gonadotropin-Releasing Hormone Deficiency.
Jin-Ho Choi, Arum Oh, Yena Lee, Gu-Hwan Kim, Han-Wook Yoo

Exp Clin Endocrinol Diabetes· June 2021

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Diagnostic yield and clinical utility of whole exome sequencing using an automated variant prioritization system, EVIDENCE.
Go Hun Seo, Taeho Kim, In Hee Choi, Jung-Young Park, Jungsul Lee, Arum Oh

Clin Genet· December 2020

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Diagnosis of Schaaf-Yang syndrome in Korean children with developmental delay and hypotonia.
Hyunji Ahn, Go Hun Seo, Arum Oh, Yena Lee, Changwon Keum

Medicine (Baltimore)· December 2020

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Molecular Characteristics of Sequence Variants in GATA4 in Patients with 46,XY Disorders of Sex Development without Cardiac Defects.
Jin-Ho Choi, Yena Lee, Arum Oh, Gu-Hwan Kim, Han-Wook Yoo

Sex Dev· September 2020

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Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.
Yena Lee, Jin-Ho Choi, Arum Oh, Gu-Hwan Kim, Sook-Hyun Park

Ann Pediatr Endocrinol Metab· June 2020

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Efficacy and safety of parenteral vitamin D therapy in infants and children with vitamin D deficiency caused by intestinal malabsorption.
Sae Bit Yu, Yena Lee, Arum Oh, Han-Wook Yoo, Jin-Ho Choi

Ann Pediatr Endocrinol Metab· June 2020

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Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy.
Yoon-Myung Kim, Mi-Sun Yum, Sun Hee Heo, Taeho Kim, Hee Kyung Jin, Arum Oh

J Med Genet· February 2020

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Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.
Eungu Kang, Yoon-Myung Kim, Go Hun Seo, Arum Oh, Hee Mang Yoon

J Hum Genet· January 2020

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Pubertal outcomes and sex of rearing of patients with ovotesticular disorder of sex development and mixed gonadal dysgenesis.
Yoon Myung Kim, Arum Oh, Kun-Suk Kim, Han-Wook Yoo, Jin-Ho Choi

Ann Pediatr Endocrinol Metab· December 2019

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Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14.
Eungu Kang, Taeho Kim, Arum Oh, Mi-Sun Yum, Changwon Keum

J Hum Genet· November 2019

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Identification of extremely rare mitochondrial disorders by whole exome sequencing.
Go Hun Seo, Arum Oh, Eun Na Kim, Yeonmi Lee, Jumi Park

J Hum Genet· November 2019

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