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 | 16 | 2020 |
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 | 12 | 2019 |
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 | 3 | 2022 |
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 |
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 |
Erken Tanı Alan Nadir Bir Katarakt Nedeni: Lowe Sendromu H Yıldız, A Sezer, M Kılıç Ege Tıp Bilimleri Dergisi 7 (3), 96-96, 2025 | | 2025 |
DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report D Yasar, A Sezer, C Aytekin, G Karacan Küçükali, B Özkaya Dönmez, ... Journal of Pediatric Endocrinology and Metabolism, 2025 | | 2025 |
Phenotypic diversity in NAXE mutations I Solmaz, D Yalnızoğlu, A Dursun, K Çıkı, HT Akar, RK Özgül, C Koşukçu, ... Neurological Sciences, 1-10, 2025 | | 2025 |
Sialidosis type 1 in a Turkish family: a case report and review of literatures M Kılıç, S İcil, A Sezer, Ö Kaya-Güneş, SS Comoğlu Journal of Pediatric Endocrinology and Metabolism 38 (2), 176-186, 2025 | | 2025 |
DNMT3A-related overgrowth syndrome presenting with immune thrombocytopenic purpura A Sezer, ÖK Güneş, B Kurucu Current Research in Translational Medicine 73 (1), 103478, 2025 | | 2025 |
RMND1 Mutation Case Report and Literature Review H Bayrak, A Sezer, M Kılıç Molecular Syndromology 15 (6), 487-494, 2024 | | 2024 |
Atypical presentation of ACCES syndrome resembling dominant Spondyloepiphyseal dysplasia tarda A Sezer, Z Özdemir, E Özkan, S Çetinkaya American Journal of Medical Genetics Part A 194 (12), e63852, 2024 | | 2024 |
Two remarkable cases of haploinsufficiency found in the DYRK1A gene E Taşdelen, UC Tekbaş, H Baş, A Sezer Acta Neurologica Belgica, 1-5, 2024 | | 2024 |
KIF22 Mutation with Spondyloepimetaphyseal Dysplasia with Joint Laxity, Leptodactylic Type 2 (SEMDJL2) BL Canga, BO Donmez, E Kurnaz, A Sezer, HG Cinar, M Keskin, KA Bala, ... HORMONE RESEARCH IN PAEDIATRICS 97, 341-341, 2024 | | 2024 |
Neonatal Diabetes Due to Insulin Gene Mutation BL Canga, K Karagoz, ES Eken, MK Vural, AY Bas, E Kurnaz, M Keskin, ... HORMONE RESEARCH IN PAEDIATRICS 97, 359-360, 2024 | | 2024 |
A Rare Case of Short Stature and Hypergonadotropic Hypogonadism: LIG4 Mutation A Akin, A Sezer, S Esen, H Ari, NG Erdogan, B Orman, ZO Uslu, ... HORMONE RESEARCH IN PAEDIATRICS 97, 414-414, 2024 | | 2024 |