Diagnosing missed cases of spinal muscular atrophy in genome, exome, and panel sequencing data sets.

Weisburd B., Sharma R., Pata V., Reimand T., Ganesh V. S., Austin-Tse C., ...Daha Fazla

Genetics in medicine : official journal of the American College of Medical Genetics, cilt.27, sa.4, ss.101336, 2025 (SCI-Expanded, Scopus)

• Yayın Türü: Makale / Tam Makale
• Cilt numarası: 27 Sayı: 4
• Basım Tarihi: 2025
• Doi Numarası: 10.1016/j.gim.2024.101336
• Dergi Adı: Genetics in medicine : official journal of the American College of Medical Genetics
• Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
• Sayfa Sayıları: ss.101336
• Çukurova Üniversitesi Adresli: Evet