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Toplam kayıt 3, listelenen: 1-3
Clinical and exome sequencing findings in seven children with Bardet-Biedl syndrome from Turkey
(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 ...
Response to Letter to the Editor: "Atrioventricular canal defect is an infrequent congenital heart disease that can be observed in Bardet-Biedl syndrome"
(Wiley, 2021)
Response to Letter to the Editor
Investigating consanguineous families from Turkey to identify autosomal recessive neurodevelopmental disorders
(SPRINGERNATURE, 2022)
Neurodevelopmental disorders...