earticle

The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation

Jang, Jin A, Sohn, Young Bae, Lee, Jang Hoon, Park, Moon Sung

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.1 2021 pp.48-54

Enamel Renal Syndrome: A Case Report of Amelogenesis Imperfecta Associated with Nephrocalcinosis

최수지, 손영배, 지숙, 송승일, 신정원, 김승혜

[Kisti 연계] 대한소아치과학회 대한소아치과학회지 Vol.47 No.3 2020 pp.344-351

Sohn, Young Bae, Kim, Yewon, Moon, Ji Eun

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.17 No.2 2020 pp.62-67

Substrate reduction therapy as a new treatment option for patients with Gaucher disease type 1: A review of literatures

Sohn, Young Bae, Yoo, Han-Wook

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.13 No.2 2016 pp.59-64

A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation

Park, Sangwook, Sohn, Young Bae, Chung, In-Soon, Hong, Ji-Hee, Jung, Eun-Jung, Jeong, Seon-Yong, Jin, Hyun-Seok

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.11 No.1 2014 pp.40-42

ERRATUM : Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA

Lee, Na Hee, Cho, Sung Yoon, Maeng, Se Hyun, Jeon, Tae Yeon, Sohn, Young Bae, Kim, Su Jin, Park, Hyung-Doo, Jin, Dong Kyu

[Kisti 연계] 대한소아과학회 Korean journal of pediatrics Vol.56 No.3 2013 p.143

A novel MLL2 gene mutation in a Korean patient with Kabuki syndrome

Kim, Soo Jin, Cho, Sung Yoon, Maeng, Se Hyun, Sohn, Young Bae, Kim, Su-Jin, Ki, Chang-Seok, Jin, Dong-Kyu

[Kisti 연계] 대한소아과학회 Korean journal of pediatrics Vol.56 No.8 2013 pp.355-358

Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases

Kim, Bu Kyung, Sohn, Young Bae, Park, Sang-Jin, Yim, Shin-Young, Chung, Yoon-Sok

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.10 No.2 2013 pp.120-123

Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH

Lee, Cha Gon, Yun, Jun-No, Park, Sang-Jin, Sohn, Young Bae

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.10 No.1 2013 pp.52-56

Diagnosis and constitutional and laboratory features of Korean girls referred for precocious puberty

Kim, Doosoo, Cho, Sung-Yoon, Maeng, Se-Hyun, Yi, Eun Sang, Jung, Yu Jin, Park, Sung Won, Sohn, Young Bae, Jin, Dong-Kyu

[Kisti 연계] 대한소아과학회 Korean journal of pediatrics Vol.55 No.12 2012 pp.481-486

LIN28B polymorphisms are associated with central precocious puberty and early puberty in girls

Park, Sung Won, Lee, Seung-Tae, Sohn, Young Bae, Cho, Sung Yoon, Kim, Se-Hwa, Kim, Su Jin, Kim, Chi Hwa, Ko, Ah-Ra, Paik, Kyung-Hoon, Kim, Jong-Won, Jin, Dong-Kyu

[Kisti 연계] 대한소아과학회 Korean journal of pediatrics Vol.55 No.10 2012 pp.388-392

Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA

Lee, Na Hee, Cho, Sung Yoon, Maeng, Se Hyun, Jeon, Tae Yeon, Sohn, Young Bae, Kim, Su Jin, Park, Hyung-Doo, Jin, Dong Kyu

[Kisti 연계] 대한소아과학회 Korean journal of pediatrics Vol.55 No.11 2012 pp.430-437

Correlation Between Unidentified Bright Objects on Brain Magnetic Resonance Imaging (MRI) and Cerebral Glucose Metabolism in Patients with Neurofibromatosis Type 1

Sohn, Young Bae, An, Young Sil, Lee, Su Jin, Choi, Jin Wook, Jeong, Seon-Yong, Kim, Hyon-Ju, Ko, Jung Min

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.9 No.2 2012 pp.84-88