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Changwon Keum
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1

The first case of novel variants of the FSHR mutation causi..:

Yoo, Sukdong ; Yoon, Ju Young ; Keum, Changwon.
Annals of Pediatric Endocrinology & Metabolism.  28 (2023)  1 - p. 54-60 , 2023
Link: https://doi.org/10.6065/..
 
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2

Genetic diagnosis of kidney disease by whole exome sequenci..:

Jung, Jiwon ; Lee, Joo Hoon ; Seo, Go Hun...
Clinical Genetics.  104 (2023)  3 - p. 298-312 , 2023
Link: https://doi.org/10.1111/..
 
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3

Clinical application of prospective whole‐exome sequencing ..:

Lee, Ja Young ; Oh, Seung‐Hwan ; Keum, Changwon..
Annals of Human Genetics.  88 (2023)  2 - p. 101-112 , 2023
Link: https://doi.org/10.1111/..
 
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4

Improving genetic diagnosis by disease-specific, ACMG/AMP v..:

Kim, So Young ; Kim, Bong Jik ; Oh, Doo Yi...
Scientific Reports.  12 (2022)  1 - p. , 2022
Link: https://doi.org/10.1038/..
 
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5

Prospective evaluation of the clinical utility of whole-exo..:

Cheon, Chong Kun ; Shin, Yong Beom ; Kim, Soo-Yeon...
Journal of Genetic Medicine.  19 (2022)  2 - p. 76-84 , 2022
Link: https://doi.org/10.5734/..
 
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6

KBG syndrome: Clinical features and molecular findings in s..:

Choi, Yunha ; Choi, Jungmin ; Do, Hyosang...
Molecular Genetics & Genomic Medicine.  11 (2022)  4 - p. , 2022
Link: https://doi.org/10.1002/..
 
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7

Clinical utility and improved speed of analysis by automate..:

Seo, Go Hun ; Kim, So Young ; Kim, Bong Jik...
Molecular Genetics and Metabolism.  132 (2021)  - p. S82-S83 , 2021
Link: https://doi.org/10.1016/..
 
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8

The first Korean cases of combined oxidative phosphorylatio..:

Yoo, Sukdong ; Kim, Young A. ; Yoon, Ju Young...
Brain and Development.  43 (2021)  2 - p. 325-330 , 2021
Link: https://doi.org/10.1016/..
 
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9

Ultra-rare renal diseases diagnosed with whole-exome sequen..:

Jung, Jiwon ; Lee, Joo Hoon ; Park, Young Seo...
BMC Medical Genomics.  14 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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10

Powerful use of automated prioritization of candidate varia..:

Kim, So Young ; Lee, Seungmin ; Seo, Go Hun...
Scientific Reports.  11 (2021)  1 - p. , 2021
Link: https://doi.org/10.1038/..
 
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11

Diverse Genetic Landscape of Suspected Retinitis Pigmentosa..:

Kim, Yoon-Jeon ; Kim, You-Na ; Yoon, Young-Hee...
Genes.  12 (2021)  5 - p. 675 , 2021
Link: https://doi.org/10.3390/..
 
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12

Phenotypic and molecular spectra of patients with switch/su..:

Lee, Yena ; Choi, Yunha ; Seo, Go Hun...
BMC Medical Genomics.  14 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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13

Diagnosis of metachromatic leukodystrophy in a patient with..:

Ahn, Hyunji ; Seo, Go Hun ; Keum, Changwon...
Brain and Development.  42 (2020)  5 - p. 414-417 , 2020
Link: https://doi.org/10.1016/..
 
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14

Effects of long-term growth hormone therapy in a girl with ..:

Son, Hyun Woo ; Lee, Jeong Eun ; Oh, Seung Hwan..
Annals of Pediatric Endocrinology & Metabolism.  25 (2020)  2 - p. 126-131 , 2020
Link: https://doi.org/10.6065/..
 
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15

Diagnosis of Schaaf-Yang syndrome in Korean children with d..:

Ahn, Hyunji ; Seo, Go Hun ; Oh, Arum...
Medicine.  99 (2020)  51 - p. e23864 , 2020
Link: https://doi.org/10.1097/..
 
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