| Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility A Sezer, G Kayhan, M Zenker, EF Percin European Journal of Medical Genetics 62 (12), 103608, 2019 | 13 | 2019 |
| 15‐LOX‐1 has diverse roles in the resensitization of resistant cancer cell lines to doxorubicin HH Kazan, C Urfali‐Mamatoglu, GD Yalcin, O Bulut, A Sezer, S Banerjee, ... Journal of cellular physiology 235 (5), 4965-4978, 2020 | 12 | 2020 |
| Expanding the phenotype and genotype in Thauvin‐Robinet‐Faivre syndrome: A new patient with a novel variant and additional clinical findings T Duzenli, A Sezer, G Kayhan, AT Arslan, FE Percin American Journal of Medical Genetics Part A 191 (8), 2232-2239, 2023 | 2 | 2023 |
| A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and … A Sezer, G Kayhan, TR Gursoy, TS Eyuboglu, FE Percin American Journal of Medical Genetics Part A 191 (1), 220-227, 2023 | 2 | 2023 |
| A de novo heterozygous HOXA11 variant in a patient with mesomelic dysplasia with urogenital abnormalities A Sezer, FE Perçin, HH Kazan, G Kayhan, M Akturk American Journal of Medical Genetics Part A 188 (6), 1890-1895, 2022 | 2 | 2022 |
| Warburg micro syndrome 1 due to segmental paternal uniparental isodisomy of chromosome 2 detected by whole-exome sequencing and homozygosity mapping A Sezer, G Kayhan, A Koç, MA Ergün, FE Perçin Cytogenetic and Genome Research 160 (6), 309-315, 2020 | 2 | 2020 |
| Systemic Primary Carnitine Deficiency: A Case Report with Homozygoys SLC22A5 Gene Mutation D Yildiz, MU Yazici, MM Oguz, EG Torun, A Sezer, M Kiliç Klinische Pädiatrie 234 (04), 244-245, 2022 | 1 | 2022 |
| A novel homozygous frameshift mutation in the PLCB4 gene associated with auriculocondylar syndrome 2 and accompanied by mild intellectual disability G Kayhan, HH KAZAN, K OZTÜRK, A Sezer, EF PERÇİN Turkiye Klinikleri Journal of Case Reports 30 (4), 258-262, 2022 | 1 | 2022 |
| Clinical and submicroscopic findings of two prenatal cases with inv dup del (8p) syndrome A Sezer, M Bayram, G Kayhan, A Unal, H Ozdemir, D Karcaaltincaba, ... Gene Reports 10, 75-78, 2018 | 1 | 2018 |
| A Recurrent c. 416C> T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical Spectrum T Daşar, A Kolkıran, A Sezer, E Bal, E Kılıç Molecular Syndromology 15 (5), 409-420, 2024 | | 2024 |
| Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia HT Akar, H Yıldız, Z Öztürk, D Karakaya, A Sezer, A Olgaç BMC nephrology 25 (1), 217, 2024 | | 2024 |
| Case report: An adolescent female with anosmic hypogonadotropic hypogonadism, intellectual disability, and papillary thyroid carcinoma: heterozygous deletion of TCF12 NB Celik, A Sezer, N Genel, S Savas-Erdeve, İ Karaman, S Cetinkaya Frontiers in Endocrinology 15, 1426916, 2024 | | 2024 |
| Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia F Distelmaier, A Sezer, C Helm, S Waldmüller, A Seibt, A Gangfuß, ... Brain, awae099, 2024 | | 2024 |
| Letter to the Editor regarding “New cases of recently described Thauvin‐Robinet‐Faivre syndrome with a novel homozygous FIBP gene variant” by Kılıç and Koşukçu, “An … T Duzenli, A Sezer, FE Percin American Journal of Medical Genetics Part A 194 (4), e63507, 2024 | | 2024 |
| SERAC1 gene mutation presented with markedly alpha fetoprotein elevation: case report H Bayrak, A Sezer, A Danış, SH Özhan, H Yıldız, M Kılıç Acta Neurologica Belgica 124 (1), 307-309, 2024 | | 2024 |
| Confirmation of PATL1 Gene as Neurodevelopmental Disease Gene by Fruit Fly Model. B Dağ, M Tufan, A Sezer, AÇ Fuss Gazi Medical Journal 35, 2024 | | 2024 |
| RMND1 Mutation Case Report and Literature Review H Bayrak, A Sezer, M Kılıç Molecular Syndromology, 1-8, 2024 | | 2024 |
| A Recurrent c. 416C> T Variant in the B3GAT3 Gene in the Turkish Population: Report of Two Siblings and Expanding the Clinical Spectrum TDAKA Sezerc, E Bald, E Kılıçe | | 2024 |
| Psikiyatrik Hastalıklarda Genom Boyu İlişkilendirme Çalışmaları SG ERGÜN, A SEZER Turkiye Klinikleri Medical Biology-Special Topics 2 (1), 38-44, 2024 | | 2024 |
| DNA Ligase IV Deficieny Identified in a Patient with Hypergonadotropic Hypogonadism: A Case Report D Yasar, GK Kucukali, BO Donmez, AA Yilmaz, I Okur, BS Ozdemir, ... HORMONE RESEARCH IN PAEDIATRICS 96, 404-405, 2023 | | 2023 |
