| 30 |
Jin Sook Lee(공저자) |
Atypical presentation of infantile-onset farber disease with novel ASAH1 mutations |
| Am J Med Genet A |
170(11) |
3023-3027 |
2016 |
 |
|
| 29 |
Jin Sook Lee(제1저자) |
GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype. |
| Am J Med Genet A |
170(8) |
2200-5 |
2016 |
|
|
| 28 |
Jin Sook Lee(제1저자) |
Leigh Syndrome in Childhood: Neurologic Progression and Functional Outcome. |
| J Clin Neurol |
12(2) |
181-7 |
2016 |
|
|
| 27 |
Jin Sook Lee(제1저자) |
SATB2-associated syndrome presenting with Rett-like phenotypes. |
| Clin Genet |
89(6) |
725-32 |
2016 |
|
|
| 26 |
Seungyoon Nam (교신저자) |
Clinical Relevance and Molecular Phenotypes in Gastric Cancer, of TP53 Mutations and Gene Expressions, in Combination With Other Gene Mutations. |
| Sci Rep |
6 |
34822 |
2016 |
|
|
