Makaleler
34
Tümü (34)
SCI-E, SSCI, AHCI (33)
SCI-E, SSCI, AHCI, ESCI (33)
Scopus (34)
TRDizin (2)
2. Expansion of the 3MC Syndrome Spectrum: Novel COLEC10 Variants and a MASP1 Exon-Level Deletion
American Journal of Medical Genetics, Part A
, cilt.200, sa.6, ss.1347-1352, 2026 (SCI-Expanded, Scopus)
4. A Rare Cause of Proportional Short Stature and Puberty Precocity: Floating-Harbor Syndrome
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.18, ss.20-24, 2026 (SCI-Expanded, Scopus, TRDizin)
28. Bisphosphonate treatment at spondylo-ocular syndrome due to a novel compound heterozygote variant in XYLT2 and review of the literature
American Journal of Medical Genetics, Part A
, cilt.191, sa.6, ss.1581-1585, 2023 (SCI-Expanded, Scopus)
30. Acromesomelic dysplasia-Maroteaux type, nine patients with two novel NPR2 variants
Journal of Pediatric Endocrinology and Metabolism
, cilt.34, sa.9, ss.1115-1121, 2021 (SCI-Expanded, Scopus)