Yazar "Öz, Özlem" için listeleme
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Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey
Gümüş, Evren; Tuncez, Ebru; Öz, Özlem; Güvenç, Merve Saka (Wiley, 2020)Background Bardet-Biedl syndrome (BBS) is a very-rare autosomal recessive genetic disorder with severe multisystem manifestations. Genetic testing plays an important role in the early diagnosis of the disease. In this ... -
Investigating consanguineous families from Turkey to identify autosomal recessive neurodevelopmental disorders
Gümüşlü, Esen; Gümüş, Evren; Öz, Özlem; Özkan, Melis; Karaer, Kadri; Ekici, Arif; Yıldız, Edibe Pembegül; Aydınlı, Nur; Reis, Andre (SPRINGERNATURE, 2022)Neurodevelopmental disorders... -
Response to Letter to the Editor: "Atrioventricular canal defect is an infrequent congenital heart disease that can be observed in Bardet-Biedl syndrome"
Gümüş, Evren; Tuncez, Ebru; Öz, Özlem; Saka Güvenç, Merve (Wiley, 2021)Response to Letter to the Editor
