Makaleler
Tümü (2)
SCI-E, SSCI, AHCI (2)
SCI-E, SSCI, AHCI, ESCI (2)
Scopus (2)
2025
20251. 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
20252. 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)