Metrikler
Yayın
10
Açık Erişim
4
BM Sürdürülebilir Kalkınma Amaçları
Makaleler
Tümü (8)
SCI-E, SSCI, AHCI (8)
SCI-E, SSCI, AHCI, ESCI (8)
Scopus (8)
TRDizin (2)
2025
20251. A Rare Craniosynostosis Phenotype Associated With a Homozygous CYP26B1 Pathogenic Variant in the Absence of Extremity Synostosis
Caliskan B. O., DEMİR M., Oktem S., YILDIRIM S., CANPOLAT M., DÜNDAR M.
American Journal of Medical Genetics, Part A
, 2025 (SCI-Expanded, Scopus)
2024
20242. A retrospective study on the clinical and molecular outcomes of calpainopathy in a Turkish patient cohort
Şahin İ. O., KARATAŞ E., DEMİR M., TAN B., PER H., ÖZKUL Y., et al.
Turkish Journal of Medical Sciences
, cilt.54, sa.1, ss.86-98, 2024 (SCI-Expanded, Scopus, TRDizin)
2023
20233. A Case of Short Stature Caused by a Mutation in the ACAN Gene
KARATAŞ E., DEMİR M., ÖZÇELİK F., KARA L., Akyurek E., BERBER U., et al.
MOLECULAR SYNDROMOLOGY
, cilt.14, sa.2, ss.123-128, 2023 (SCI-Expanded, Scopus)
2023
20234. Neonatal Diabetes, Congenital Hypothyroidism, and Congenital Glaucoma Coexistence: A Case of GLIS3 Mutation
Sarıkaya E., Kendirci M., Demir M., DÜNDAR M.
JCRPE Journal of Clinical Research in Pediatric Endocrinology
, cilt.15, sa.4, ss.426-430, 2023 (SCI-Expanded, Scopus, TRDizin)
2023
20235. Case Report: A Novel Mutation Leading to 11-β Hydroxylase Deficiency in a Female Patient
ÖZBAŞ B., DEMİR M., DURSUN H., Sahin I., HACIOĞLU A., ÖZDAMAR KARACA Z. C., et al.
ENDOCRINE METABOLIC & IMMUNE DISORDERS-DRUG TARGETS
, cilt.23, sa.5, ss.721-726, 2023 (SCI-Expanded, Scopus)
2022
20226. Congenital Myasthenic Syndromes in Turkey: Clinical and Molecular Characterization of 16 Cases With Three Novel Mutations
YILDIRIM S., GÜLEÇ A., Erdoğan M., Demir M., CANPOLAT M., GÜMÜŞ H., et al.
Pediatric Neurology
, cilt.136, ss.43-49, 2022 (SCI-Expanded, Scopus)
2022
20227. Clinical and molecular evaluation of MEFV gene variants in the Turkish population: a study by the National Genetics Consortium
DÜNDAR M., FAHRİOGLU U., Yildiz S. H., Bakir-Gungor B., TEMEL Ş. G., AKIN H., et al.
FUNCTIONAL & INTEGRATIVE GENOMICS
, cilt.22, sa.3, ss.291-315, 2022 (SCI-Expanded, Scopus)
2021
20218. Detection of mutations in CML patients resistant to tyrosine kinase inhibitor: imatinib mesylate therapy
KARASU N., Akalin H., GÖKÇE N., YILDIRIM A., DEMİR M., Kulak H., et al.
MEDICAL ONCOLOGY
, cilt.38, sa.10, 2021 (SCI-Expanded, Scopus)
