Bilgesu AK

Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Tıbbi Genetik Anabilim Dalı

Yayınlar

• Expanding the genetic spectrum of short rib polydactyly syndrome: Novel DYNC2H1 variants and functional insights (2025)
• Uniparental Disomy of Chromosome 4: A Case of Whole Chromosome UPD Presenting with LRBA Deficiency (2024)
• A complex t(15;22;17)(q22;q11.2;q21) variant of APL (2024)
• Expanding the spectrum of short rib thoracic dysplasia case with a novel nonsynonymous and a synonymous variant in DYNC2H1 (2023)

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