Undiagnosed Hackathon Ends Diagnostic Odyssey in a Patient With DNA2-Related Rothmund-Thomson Syndrome.

Ay B., Akgun-Dogan Ö., Taylan F., Marcelis C., Abali S., Lim J. Y., ...More

American journal of medical genetics. Part A, 2025 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume:
  • Publication Date: 2025
  • Doi Number: 10.1002/ajmg.a.64179
  • Journal Name: American journal of medical genetics. Part A
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Applied Science & Technology Source, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Acibadem Mehmet Ali Aydinlar University Affiliated: Yes