본원진료
감사의 메세지
교수님께 감사의 메시지를 전달 해보세요.
논문
총 : 109 건| 제목 | Systematic analysis of Mendelian disease-associated gene variants reveals new classes of cancer-predisposing genes | ||
|---|---|---|---|
| 발표지 | GENOME MEDICINE | 발표년월 | 2023-2 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/38143269/ | ||
| 제목 | Recurrent Vascularizing Keratitis in Infants With Hereditary Mucoepithelial Dysplasia Related to SREBF1 Mutation | ||
|---|---|---|---|
| 발표지 | CORNEA | 발표년월 | 2023-2 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/37699567/ | ||
| 제목 | Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome | ||
|---|---|---|---|
| 발표지 | ANNALS OF LABORATORY MEDICINE | 발표년월 | 2023-1 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/37387500/ | ||
| 제목 | Cardiovascular Characteristics and Progressions of Hypertrophic Cardiomyopathy and Pulmonary Stenosis in RASopathy Syndrome in the Genomic Era | ||
|---|---|---|---|
| 발표지 | JOURNAL OF PEDIATRICS | 발표년월 | 2023-1 |
| Pubmed URL | https://www.ncbi.nlm.nih.gov/pubmed/36806754/ | ||