- Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement
- Byungseung Moon, Minhye Kim, Hye Jin Kim et al.
- Clin Exp Pediatr. 2023;66(3):142-144.
-
- A case of Becker muscular dystrophy with early manifestation of cardiomyopathy
- Ki Hyun Doo, Hye Won Ryu, Seung Soo Kim et al.
- Clin Exp Pediatr. 2012;55(9):350-353.
-
- A case of isodicentric chromosome 15 presented with epilepsy and developmental delay
- Jon Soo Kim, Jinyu Park, Byung-Joo Min et al.
- Clin Exp Pediatr. 2012;55(12):487-490.
-
- A case of mucolipidosis II presenting with prenatal skeletal dysplasia and severe secondary hyperparathyroidism at birth
- Ju Sun Heo, Ka Young Choi, Se Hyoung Sohn et al.
- Clin Exp Pediatr. 2012;55(11):438-444.
-
- A case of Rubinstein-Taybi Syndrome with a CREB-binding protein gene mutation
- Se Hee Kim, Byung Chan Lim, Jong Hee Chae et al.
- Clin Exp Pediatr. 2010;53(6):718-721.
-
- A Case of Ileal Atresia with Hypertrophic Pyloric Stenosis
- Byung Chan Lim, Jung Ha Lee, Kwang Sig Kim et al.
- Clin Exp Pediatr. 2003;46(4):393-396.
-