Works matching IS 2731085X AND DT 2025 AND VI 4 AND IP 1
Results: 5
Genomic diversity: meeting the challenge of rare diseases.
- Published in:
- Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00067-0
- By:
- Publication type:
- Article
ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38.
- Published in:
- Journal of Rare Diseases, 2025, v. 4, n. 1, p. 1, doi. 10.1007/s44162-025-00066-1
- By:
- Publication type:
- Article
Apert syndrome: a rare congenital anomaly and experience from a low-resource country: a case report and review of the literature.
- Published in:
- 2025
- By:
- Publication type:
- Case Study
Cerebral vein thrombosis as the initial presentation of acute promyelocytic leukemia (APML).
- Published in:
- 2025
- By:
- Publication type:
- Case Study
Fitz-Hugh-Curtis syndrome: a case study of a frequently missed diagnosis.
- Published in:
- 2025
- By:
- Publication type:
- Case Study