Yayınlar & Eserler

Yayın Ağı
Makaleler 8
Tümü (8)
SCI-E, SSCI, AHCI (8)
SCI-E, SSCI, AHCI, ESCI (8)
Scopus (8)
TRDizin (2)

1. 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) identifier identifier identifier identifier

2. 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) Creative Commons License identifier identifier identifier identifier

3. 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) identifier identifier identifier

4. 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) Creative Commons License Sürdürülebilir Kalkınma identifier identifier identifier identifier

5. 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) Sürdürülebilir Kalkınma identifier identifier identifier

6. 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) identifier identifier identifier

7. 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) Sürdürülebilir Kalkınma identifier identifier identifier

8. 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) Creative Commons License identifier identifier identifier
Metrikler

Yayın

10

Yayın (WoS)

9

Yayın (Scopus)

8

Atıf (WoS)

12

H-İndeks (WoS)

3

Atıf (Scopus)

29

H-İndeks (Scopus)

3

Atıf (Scholar)

18

H-İndeks (Scholar)

2

Açık Erişim

4
BM Sürdürülebilir Kalkınma Amaçları