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Chae, Jong-Hee
6131  Ergebnisse:
Personensuche X
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1

Clinical Characteristics of Diabetes in People with Mitocho..:

Rho, Eun Hoo ; Baek, Sang Ik ; Lee, Heerah...
Diabetes & Metabolism Journal.  48 (2024)  3 - p. 482-486 , 2024
Link: https://doi.org/10.4093/..
 
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2

Clinical and Genetic Spectrum of Tubulinopathy: A Single-Ce..:

Son, Hey-Joon ; Kim, Minhye ; Kim, Hye Jin...
Annals of Child Neurology.  32 (2024)  2 - p. 115-121 , 2024
Link: https://doi.org/10.26815..
 
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3

Diagnostic uplift through the implementation of short tande..:

Yoon, Jihoon G. ; Lee, Seungbok ; Cho, Jaeso...
European Journal of Human Genetics.  32 (2024)  5 - p. 584-587 , 2024
Link: https://doi.org/10.1038/..
 
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4

De novo missense variants in HDAC3 leading to epigenetic ma..:

Yoon, Jihoon G. ; Lim, Seong-Kyun ; Seo, Hoseok...
The American Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1016/..
 
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5

Discovery of novel disease-causing mutation in SSBP1 and it..:

Cha, Ju Hyuen ; Lee, Seok-Hoon ; Yun, Yejin...
Molecular Therapy - Nucleic Acids.  35 (2024)  3 - p. 102257 , 2024
Link: https://doi.org/10.1016/..
 
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6

Safety and Efficacy of Ataluren in nmDMD Patients from Stud..:

McDonald, Craig M. ; Wu, Shiwen ; Gulati, Sheffali...
Neurology.  100 (2023)  17_supplement_2 - p. , 2023
Link: https://doi.org/10.1212/..
 
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7

Expansion of clinico-genetic spectrum of PRDX3 disease: a l..:

Cho, Jaeso ; Yoon, Jihoon G ; Lee, Seungbok...
Brain Communications.  5 (2023)  5 - p. , 2023
Link: https://doi.org/10.1093/..
 
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8

Clinical applications of next-generation sequencing in the ..:

Yoon, Jihoon G. ; Kim, Man Jin ; Kwon, Yong Jin.
Journal of the Korean Medical Association.  66 (2023)  10 - p. 613-623 , 2023
Link: https://doi.org/10.5124/..
 
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9

A case of pediatric anti-leucine-rich glioma inactivated 1 ..:

Jang, Seoyun ; Kim, Soo Yeon ; Kim, Woo Joong...
Brain and Development.  45 (2023)  6 - p. 348-353 , 2023
Link: https://doi.org/10.1016/..
 
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10

Seizure Evolution and Outcome in Pediatric Autoimmune Encep..:

Woo, Hyewon ; Shim, Youngkyu ; Chae, Jong-Hee..
Pediatric Neurology.  139 (2023)  - p. 35-42 , 2023
Link: https://doi.org/10.1016/..
 
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11

The Korean Genetic Diagnosis Program for Rare Disease Phase..:

Kim, Man Jin ; Kim, Boram ; Lee, Heerah...
European Journal of Human Genetics.  31 (2023)  10 - p. 1147-1153 , 2023
Link: https://doi.org/10.1038/..
 
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12

Nusinersen demonstrates effectiveness in treating spinal mu..:

Cho, Jaeso ; Lee, Jiwon ; Kim, Jihye...
Frontiers in Neurology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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13

Broad spectrum of phenotype and genotype in Korean α-dystro..:

Ko, Young Jun ; Cho, Anna ; Kim, Woo Joong...
Neuromuscular Disorders.  33 (2023)  5 - p. 425-431 , 2023
Link: https://doi.org/10.1016/..
 
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14

Epilepsy phenotype and gene ontology analysis of the 129 ge..:

Ko, Young Jun ; Kim, Soo Yeon ; Lee, Seungbok...
Frontiers in Neurology.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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15

A database of 5305 healthy Korean individuals reveals genet..:

Lee, Jeongeun ; Lee, Jean ; Jeon, Sungwon...
Experimental & Molecular Medicine.  54 (2022)  11 - p. 1862-1871 , 2022
Link: https://doi.org/10.1038/..
 
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