Yazar "0000-0001-9932-0730" için Dahili Tıp Bilimleri Bölümü Koleksiyonu listeleme
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Clinical findings and a DNA methylation signature in kindreds with alterations in ZNF711
Wang, Jiyong; Foroutan, Aidin; Richardson, Ellen; Skinner, Steven A.; Reilly, Jack; Gümüş, Evren (SPRINGERNATURE, 2022)ZNF711 is one of eleven zinc-finger genes on the X chromosome that have been associated with X-linked intellectual disability. This association is confirmed by the clinical findings in 20 new cases in addition to 11 cases ... -
The Link between miR-96 Levels and the Developmental Dysplasia of the Hip
Gümüş, Evren (GAZI UNIV, 2022)Background: Developmental dysplasia of the hip (DDH) is a sophisticated skeletal disease ranging from subluxation to entire dislocation of the hip as a result of missing growth of the acetabulum and femur. DDH clearly has ... -
A novel homozygous RIPK4 variant in a family with severe Bartsocas-Papas syndrome
Dinçer, Tuba; Gümüş, Evren; Toraman, Bayram; İdris, Er; Yıldız, Gökhan; Yüksel, Zafer; Kalay, Ersan (Wiley, 2021)Bartsocas-Papas syndrome (BPS) is a rare autosomal recessive disorder characterized by popliteal pterygia, syndactyly, ankyloblepharon, filiform bands between the jaws, cleft lip and palate, and genital malformations. Most ...