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Molecular Syndromology|October 9, 2025
Confirmation of the Hotspot Variant in <i>MAP3K20</i> Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly SpectrumElifcan Taşdelen, Müzeyyen Gönül, Bahar Öztelcan Gündüz, et al.
BMC Nephrology|July 8, 2024
Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemiaHalil Tuna Akar, Harun Yıldız, Zeynelabidin Öztürk, et al.
American Journal of Medical Genetics. Part A|October 10, 2022
A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung diseaseAbdullah Sezer, Gulsum Kayhan, Tugba Ramasli Gursoy, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|October 13, 2025
A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndromeEsra Sayar, Gizem Gökçe Altaş, Abdullah Sezer, et al.
Frontiers in Endocrinology|July 22, 2024
Case report: An adolescent female with anosmic hypogonadotropic hypogonadism, intellectual disability, and papillary thyroid carcinoma: heterozygous deletion of <i>TCF12</i>Nur Berna Celik, Abdullah Sezer, Nebiyye Genel, et al.
Familial Cancer|June 19, 2026
Monoallelic NTHL1 p.(Gln90*) and cancer risk: evidence from a large Turkish cohortEsma Ertürkmen Aru, Afife Büke, Hanife Saat, et al.
Journal of Pediatric Endocrinology & Metabolism : JPEM|May 26, 2026
A comparative analysis of all reported patients with MTHFS-related neurodevelopmental disorderMustafa Kılıç, Suzan İcil, Esra Sayar, et al.
American Journal of Medical Genetics. Part A|March 6, 2025
Expanding the Genetic Spectrum of PPM1K-Related Maple Syrup Urine Disease: A Novel MutationMustafa Kılıç, Esra Sayar, Suzan İcil, et al.
Journal of Cellular Physiology|October 31, 2019
15-LOX-1 has diverse roles in the resensitization of resistant cancer cell lines to doxorubicinHasan Huseyin Kazan, Cagri Urfali-Mamatoglu, Gizem Damla Yalcin, et al.
Molecular Syndromology|April 6, 2026
Clinical and Molecular Features of 11 Patients with Different Subtypes of Ehlers-Danlos SyndromeAyşe Burcu Doğan Arı, Hasan Arı, Abdullah Sezer, et al.
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