Makaleler

Tümü (2)

SCI-E, SSCI, AHCI (2)

SCI-E, SSCI, AHCI, ESCI (2)

Scopus (2)

2025

2025

1. A Novel Homozygous Missense SCUBE3 Variant with Protein Modeling in a Patient Diagnosed as Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies 2.

Yeter B., Sezgin B. I., DİLEK Y. E., Kendir Demirkol Y., Selamioǧlu A., Klrmlzlbekmez H., et al.

Molecular syndromology , cilt.16, sa.5, ss.507-516, 2025 (SCI-Expanded, Scopus)

2025

2025

2. Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants

KAYMAKÇALAN ÇELEBİLER H., Barak T., Rai D. K., KAYA İ., Erbilgin S., ÇIKILI UYTUN M., et al.

Molecular Syndromology , cilt.16, sa.4, ss.342-353, 2025 (SCI-Expanded, Scopus)