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., ...Daha Fazla

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

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası:
  • Basım Tarihi: 2025
  • Doi Numarası: 10.1002/ajmg.a.64179
  • Dergi Adı: American journal of medical genetics. Part A
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Applied Science & Technology Source, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Evet