E-LIB Suche - Ergebnisse für: Young Bae Sohn

1

Biomarkers of Glycosaminoglycans (GAG) accumulation in pati..:

Sohn, Young Bae ; Wang, Raymond ; Ashworth, Jane...
Molecular Genetics and Metabolism Reports. 38 (2024) - p. 101041 , 2024

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

2

Using low-dose octreotide with diazoxide-resistant congenit..:

Park, Kyujung ; Lim, Kyung In ; Sohn, Young Bae..
Annals of Pediatric Endocrinology & Metabolism. 28 (2023) Suppl 1 - p. S23-S24 , 2023

Link: https://doi.org/10.6065/..

3

Updates on Obesity in Prader-Willi Syndrome: From Genetics ..:

Sohn, Young Bae ; Moon, Ji Eun ; Jung, Yeo Jin.
The Ewha Medical Journal. 46 (2023) s1 - p. , 2023

Link: https://doi.org/10.12771..

4

Genetic obesity: an update with emerging therapeutic approa..:

Sohn, Young Bae
Annals of Pediatric Endocrinology & Metabolism. 27 (2022) 3 - p. 169-175 , 2022

Link: https://doi.org/10.6065/..

5

Aperiodic alternating nystagmus in adult-onset Alexander di..:

Kim, Min Hye ; Lee, Jin Soo ; Hong, Ji Man..
Journal of Neurology. 270 (2022) 1 - p. 569-572 , 2022

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

6

Newborn Periventricular Nodular Heterotopia with Persistent..:

Hong, Seok Jin ; Park, Ji Eun ; Sohn, Young Bae...
Neonatal Medicine. 29 (2022) 4 - p. 149-153 , 2022

Link: https://doi.org/10.5385/..

7

Timing is everything: Clinical courses of Hunter syndrome a..:

Grant, Nathan ; Sohn, Young Bae ; Ellinwood, N. Matthew...
Molecular Genetics and Metabolism Reports. 30 (2022) - p. 100845 , 2022

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

8

Updates on Paget's Disease of Bone:

Choi, Yong Jun ; Sohn, Young Bae ; Chung, Yoon-Sok
Endocrinology and Metabolism. 37 (2022) 5 - p. 732-743 , 2022

Link: https://doi.org/10.3803/..

9

RNA analysis of the GALNS transcript reveals novel pathogen..:

Sohn, Young Bae ; Rogers, Curtis ; Stallworth, Jennifer...
Molecular Genetics and Metabolism Reports. 31 (2022) - p. 100875 , 2022

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

10

The genetics of obesity: A narrative review:

Sohn, Young Bae
Precision and Future Medicine. 6 (2022) 4 - p. 226-232 , 2022

Link: https://doi.org/10.23838..

11

Timing is everything in Hunter syndrome: Differential clini..:

Grant, Nathan ; Sohn, Young Bae ; Ellinwood, N. Matthew...
Molecular Genetics and Metabolism. 135 (2022) 2 - p. S51 , 2022

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

12

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/..

13

A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40..:

Suh, Yoong-a ; Sohn, Young Bae ; Park, Moon Sung.
Neonatal Medicine. 28 (2021) 2 - p. 89-93 , 2021

Link: https://doi.org/10.5385/..

14

The first Korean case of a newborn with 3p26 microdeletion ..:

Jang, Jin A ; Sohn, Young Bae ; Lee, Jang Hoon.
Journal of Genetic Medicine. 18 (2021) 1 - p. 48-54 , 2021

Link: https://doi.org/10.5734/..

15

Genetic Analysis Using a Next Generation Sequencing-Based G..:

Kim, Su Jin ; Lee, Sae-Mi ; Choi, Jong-Moon...
Frontiers in Genetics. 12 (2021) - p. , 2021

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