E-LIB Suche - Ergebnisse für: Chae, Jong-Hee

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

2

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

Yoon, Jihoon G. ; Lim, Seong-Kyun ; Seo, Hoseok...
The American Journal of Human Genetics. 111 (2024) 8 - p. 1588-1604 , 2024

Link: https://doi.org/10.1016/..

3

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..

4

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/..

5

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/..

6

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/..

7

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/..

8

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/..

9

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/..

10

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/..

11

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/..

12

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/..

13

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/..

14

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/..

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/..