E-LIB Suche - Ergebnisse für: Jang, Se-Song

1

Estimation of Prognostic Marker Genes by Public Microarray ..:

Yang, San-Duk ; Jang, Se-Song ; Han, Jeong A...
Yonsei Medical Journal. 57 (2016) 4 - p. 872 , 2016

Link: https://doi.org/10.3349/..

2

Broadening the scope of multigene panel analysis for adult ..:

Lee, Seungbok ; Kang, Mi‐Kyoung ; So, Ki Hurn...
Epilepsia Open. 9 (2024) 4 - p. 1538-1549 , 2024

Link: https://doi.org/10.1002/..

3

ATP2B2 de novo variants as a cause of variable neurodevelop..:

Poggio, Elena ; Barazzuol, Lucia ; Salmaso, Andrea...
Genetics in Medicine. 25 (2023) 12 - p. 100971 , 2023

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

4

The Korean undiagnosed diseases program phase I: expansion ..:

Kim, Soo Yeon ; Lee, Seungbok ; Woo, Hyewon...
Orphanet Journal of Rare Diseases. 17 (2022) 1 - p. , 2022

Link: https://doi.org/10.1186/..

5

Systematic analysis of inheritance pattern determination in..:

Park, Soojin ; Jang, Se Song ; Lee, Seungbok...
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

6

The extended clinical and genetic spectrum of CTNNB1-relate..:

Lee, Seungbok ; Jang, Se Song ; Park, Soojin...
Frontiers in Pediatrics. 10 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

7

Sequencing Cell-free Fetal DNA in Pregnant Women With GCK-M..:

Kwak, Soo Heon ; Powe, Camille E ; Jang, Se Song...
The Journal of Clinical Endocrinology & Metabolism. 106 (2021) 9 - p. 2678-2689 , 2021

Link: https://doi.org/10.1210/..

8

Genetic diagnosis of infantile‐onset epilepsy in the clinic..:

Kim, Soo Yeon ; Jang, Se Song ; Kim, Hunmin...
Clinical Genetics. 99 (2021) 3 - p. 418-424 , 2021

Link: https://doi.org/10.1111/..

9

A newly developed capture-based sequencing panel for genomi..:

Im, Sun-Wha ; Chae, Jeesoo ; Jang, Se Song...
Genes & Genomics. 42 (2020) 7 - p. 751-759 , 2020

Link: https://doi.org/10.1007/..

10

Spectrum of movement disorders in GNAO1 encephalopathy: in-..:

Kim, Soo Yeon ; Shim, YoungKyu ; Ko, Young Joon...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

11

Dissecting the phenotypic and genetic spectrum of early chi..:

Kim, Soo Yeon ; Jang, Se Song ; Kim, Jong-Il...
Seizure. 71 (2019) - p. 222-228 , 2019

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

12

Diagnostic Yield of Epilepsy Panel Testing in Patients With..:

Jang, Se Song ; Kim, Soo Yeon ; Kim, Hunmin...
Frontiers in Neurology. 10 (2019) - p. , 2019

Link: https://doi.org/10.3389/..

13

Identifying Pathogenic Variants of Monogenic Diabetes Using..:

Park, Seung Shin ; Jang, Se Song ; Ahn, Chang Ho...
The Journal of Clinical Endocrinology & Metabolism. 104 (2019) 9 - p. 4188-4198 , 2019

Link: https://doi.org/10.1210/..

14

Importance of early diagnosis in LMNA‐related muscular dyst..:

Choi, Sun Ah ; Cho, Anna ; Kim, Soo Yeon...
Muscle & Nerve. 60 (2019) 6 - p. 668-672 , 2019

Link: https://doi.org/10.1002/..

15

Development of a common platform for the noninvasive prenat..:

Jang, Se Song ; Lim, Byung Chan ; Yoo, Seong‐Keun...
Prenatal Diagnosis. 38 (2018) 11 - p. 835-840 , 2018

Link: https://doi.org/10.1002/..