TürkiyeDiagnosis and screening
Gene panel in 18 patients with hereditary spherocytosis in Istanbul: 9 new gene changes identified
At Marmara University, 18 pediatric patients were studied genetically.
Peer-reviewed publicationSpherocytosis
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TürkiyeDiagnosis and screening
18 patients with Beckwith-Wiedemann in Ankara: international scoring found helpful for diagnosis
Children with Beckwith-Wiedemann syndrome were studied at Ankara Bilkent City Hospital.
Peer-reviewed publicationBeckwith-Wiedemann
USADiagnosis and screening
Newborn genome screening in New York: 3.7% of the first 4,000 babies screened positive
In New York City, USA, babies are screened with genome sequencing in addition to the heel-prick blood test.
Peer-reviewed publication