1. A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re‐evaluating primer sequences. (24th August 2022) Authors: Kim, Sang‐Mi; Noh, Eu Seon; Park, Jong‐Ho; Park, Hyung‐Doo; Lee, Soo‐Youn; Jang, Ja‐Hyun; Cho, Sung Yoon Journal: Annals of human genetics Issue: Volume 86:Number 6(2022) Page Start: 361 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report. Issue 18 (May 2016) Authors: Jeong, Je Hoon; Lee, A Leum; Cho, Sung Yoon; Jin, Dong Kyu; Im, Soo-Bin Other Names: Rajasekharan. Chandrasekharan section editor. Journal: Medicine Issue: Volume 95:Issue 18(2016) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Arnold Chiari Malformation With Sponastrime (Spondylar and Nasal Changes, With Striations of the Metaphyses) Dysplasia: A Case Report. Issue 18 (May 2016) Authors: Jeong, Je Hoon; Lee, A Leum; Cho, Sung Yoon; Jin, Dong Kyu; Im, Soo-Bin Editors: Rajasekharan., Chandrasekharan Journal: Medicine Issue: Volume 95:Issue 18(2016) Page Start: e3155 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical Characteristics of Autosomal Dominant GJA1 Missense Mutation Linked to Oculodentodigital Dysplasia in a Korean Family. Issue 4 (April 2019) Authors: Park, Do Young; Cho, Sung Yoon; Jin, Dong-Kyu; Kee, Changwon Journal: Journal of glaucoma Issue: Volume 28:Issue 4(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Disease‐specific growth charts for Korean infants with Prader–Willi syndrome. (22nd October 2014) Authors: Lee, Jieun; Isojima, Tsuyoshi; Chang, Mi Sun; Kwun, Young Hee; Huh, Rimm; Cho, Sung Yoon; Sohn, Young Bae; Jin, Dong‐Kyu Journal: American journal of medical genetics Issue: Volume 167:Number 1(2015:Jan.) Page Start: 86 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II. Issue 1 (December 2015) Authors: Cho, Sung Yoon; Lee, Jeehun; Ko, Ah-Ra; Kwak, Min Jung; Kim, Sujin; Sohn, Young Bae; Park, Sung Won; Jin, Dong-Kyu Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II. Issue 1 (December 2015) Authors: Cho, Sung Yoon; Lee, Jeehun; Ko, Ah-Ra; Kwak, Min Jung; Kim, Sujin; Sohn, Young Bae; Park, Sung Won; Jin, Dong-Kyu Journal: Orphanet journal of rare diseases Issue: Volume 9:Issue 1(2014) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Efficacy and safety of the recombinant human growth hormone in short children born small for gestational age: A randomized, multicentre, comparative phase III trial. Issue 30 (30th July 2021) Authors: Kim, Su Jin; Kim, Min-Sun; Cho, Sung Yoon; Suh, Byung-Kyu; Ko, Cheol Woo; Lee, Kee-Hyoung; Yoo, Han-Wook; Shin, Choong Ho; Hwang, Jin Soon; Kim, Ho-Seong; Chung, Woo Yeong; Kim, Chan Jong; Han, Heon-Seok; Jin, Dong-Kyu Other Names: Saad. Khaled section editor. Journal: Medicine Issue: Volume 100:Issue 30(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA12. Issue 3 (8th February 2013) Authors: Park, Hyung‐Doo; Ko, Ah‐Ra; Ki, Chang‐Seok; Lee, Soo‐Youn; Kim, Jong‐Won; Cho, Sung Yoon; Kim, Se Hwa; Park, Sung Won; Sohn, Young Bae; Jin, Dong‐Kyu Journal: American journal of medical genetics Issue: Volume 161:Issue 3(2013:Mar.) Page Start: 509 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Identification and In Vivo Functional Characterization of Novel Compound Heterozygous BMP1 Variants in Osteogenesis Imperfecta. Issue 2 (February 2015) Authors: Cho, Sung Yoon; Asharani, P.V.; Kim, Ok‐Hwa; Iida, Aritoshi; Miyake, Noriko; Matsumoto, Naomichi; Nishimura, Gen; Ki, Chang‐Seok; Hong, Geehay; Kim, Su Jin; Sohn, Young Bae; Park, Sung Won; Lee, Jieun; Kwun, Younghee; Carney, Thomas J.; Huh, Rimm; Ikegawa, Shiro; Jin, Dong‐Kyu Journal: Human mutation Issue: Volume 36:Issue 2(2015:Feb.) Page Start: 191 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗