日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Exploratory Associations of Targeted Genetic Variants with Cephalometric Airway Parameters in Children with Skeletal Class II Sleep-Disordered Breathing Symptoms

探索性研究靶向基因变异与骨性 II 类睡眠呼吸障碍症状儿童头颅测量气道参数的关联

Karaca Kurt, Nazlı; Algul, Hilal; Ceylaner, Serdar; Ceylaner, Gulay; Altug, Ayse Tuba; Toygar Memikoglu, Tulin Ufuk

Clinical and immunological spectrum of MHC class I deficiency: insights from a long-term cohort with two novel mutations

MHC I 类缺陷的临床和免疫学谱:来自一项包含两种新突变的长期队列研究的启示

Haskologlu, Sule; Ikinciogullari, Aydan; Islamoglu, Candan; Bal, Sevgi Kostel; Bayrakoglu, Deniz; Erdem, Serife; Karahan, Zeynep Ceren; Ardeniz, Omur; Aytekin, Caner; Heper, Aylin; Ceylaner, Serdar; Dogu, Figen

IGF Pathway Components as Potential Biomarkers in Gastric Cancer

IGF通路组分作为胃癌潜在生物标志物

Ceylaner, Betul; Sahin, Furkan; Yildiz, Anil; Tastekin, Didem; Gok, Ali Fuat Kaan; Baykal, Ahmet Tarik

Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants

描绘土耳其夏科-马里-图斯病的遗传图谱:独特的分布、罕见表型和新的变异

Cakar, Arman; Candayan, Ayse; Bagırova, Gulandam; Uyguner, Zehra Oya; Ceylaner, Serdar; Durmus, Hacer; Battaloglu, Esra; Parman, Yesim

Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor

探索帕金森病中的GBA1基因:来自小亚细亚的患病率和变异谱

Koç Yekedüz, Merve; Yilmaz, Rezzak; Abali, Talha; Kibrit, Sema Nur; Karacan, Ahmet Veli; Unutmaz, Elif Yüsra; Ayık, Gülnur; Genç-Batmaz, Dudu; Dilek, G Rana; Çelik, Binnur; Gemci, Emine; Şahin, Turgut; Yalcin, Ahmet; Ceylaner, Serdar; Akbostancı, M Cenk; Eminoğlu, Fatma Tuba

Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience

经基因检测确诊的遗传性痉挛性截瘫患儿:单中心经验

Besen, Seyda; Özkale, Yasemin; Özkale, Murat; Bozdoğan, Sevcan Tuğ; Alkan, Özlem; Ceylaner, Serdar; Erol, İlknur

Coexistence of a Leaky SCID Phenotype With Hyperphenylalaninemia in an Adult Case

成人病例中渗漏型重症联合免疫缺陷表型与高苯丙氨酸血症的共存

Musabak, Ugur; Erdogan, Tuba; Akcay, Muserref Sule; Ceylaner, Serdar

Exploring Molecular and Phenotypic Characteristics of NAGLU Arg234Gly and Asp312Asn Variants

探索 NAGLU Arg234Gly 和 Asp312Asn 变体的分子和表型特征

Kaymakcalan Celebiler, Hande; Barak, Tanyeri; Rai, Devendra K; Kaya, Ilyas; Erbilgin, Seda; Cikili Uytun, Merve; Oztop, Didem; Gumus, Hakan; Per, Huseyin; Ceylaner, Serdar; Bozkurt, Icten; Kontaridis, Maria I; Bilguvar, Kaya; Akhun, Nilay; Kilincaslan, Ayse; Caglayan, Ahmet Okay; Erson-Omay, E Zeynep; Gunel, Murat; Ercan-Sencicek, A Gulhan

Phenotypic Delineation of Combined Oxidative Phosphorylation Deficiency-12: Clinical Features of 2 Patients

联合氧化磷酸化缺陷-12的表型特征:2例患者的临床特征

Bahar Ister, Meral; Cinar, Muge; Ceylaner, Serdar; Uzun, Ozlem Unal

Different Clinic, Different Diagnosis: Tyrosinemia Type 3

不同诊所,不同诊断:酪氨酸血症3型

Basan, Hacer; Ceylaner, Serdar; Küçükcongar Yavaş, Aynur