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

Multidimensional Assessment of Patient-Reported-Outcomes in a Multicenter Cohort of Inborn Errors of Immunity

多中心先天性免疫缺陷队列中患者报告结局的多维度评估

Yorgun Altunbas, Melek; Sefer, Asena Pinar; Bilgic-Eltan, Sevgi; Yildirimcakar, Cebbar; Ozturk, Pelin; Dikici, Ümmügülsüm; Tüsüz Önata, Ece; Atik, Özge; Eke-Gungor, Hatice; Kolukisa, Burcu; Bekis Bozkurt, Hayrunnisa; Kocatepe, Gaye; Kökcü Karadağ, Şefika İlknur; İlhan Yalaki, Aysu; Canitez Oral, Zeycan; Iskender, Nagihan; Kıratlı Yolcu, Tuğba Kıratlı; Şirin, Dilan; Gumusburun, Reyhan; Tekcan, Demet; Celik, Iknur Kulhas; Can, Salim; Amirov, Razin; Ozturk, Necmiye; Bozkurt, Selcen; Colak, Burkay Cagan; Mahmudov, Ramin; Yalcın Gungoren, Ezgi; Karabiber, Esra; Artac, Hasibe; Ardeniz, Omur; Eser Simsek, Isıl; Çelmeli, Fatih; Arikoglu, Tuğba; Özçeker, Deniz; Kocacik Uygun, Dilara; Bingol, Aysen; Tepetam, Fatma Merve; Özdemir, Öner; Ar, Muhlis Cem; Arik Yilmaz, Ebru; Ozen, Ahmet; Baris, Safa; Karakoc-Aydiner, Elif

The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel Variants

安纳托利亚中部一家三级参考中心在携带 ZAP-70 变异体(包括两种新变异体)的儿童中的经验

Göktaş, Serdar; Kalaycik Sengul, Ozlem; Erdem, Şerife; Eke Güngör, Hatice; Babayeva, Royala; Bilgic-Eltan, Sevgi; Güzel, Turan; Dörterler, Koray; Rohlfs, Meino; Özcan, Alper; Yilmaz, Ebru; Karakukcu, Musa; Akar, Haluk Himmet; Karakoc-Aydiner, Elif; Özen, Ahmet; Elmas, Muhsin; Patiroğlu, Türkan; Doğan, Muhammet E; Baş, Hasan; Taylor, Naomi; Baris, Safa; Klein, Christoph; Eken, Ahmet; Ünal, Ekrem

Targeting Hypercalciuria in SLC34A1-Related Disorders: Impact of Oral Phosphate Therapy and Novel Genetic Insights in Pediatric Case Series

针对SLC34A1相关疾病中的高钙尿症:口服磷酸盐疗法的影响及儿科病例系列中的新遗传学见解

Turan, Ihsan; Atar, Muge; Eltan, Mehmet; Anik, Ahmet; Bitkin, Eda Celebi; Dilek, Semine Ozdemir; Cay, Mevra; Bozdogan, Sevcan Tuğ; Döneray, Hakan; Kotan, Damla; Turan, Serap; Yüksel, Bilgin; Topaloglu, Ali Kemal

A Comprehensive Assessment of Health-Related Quality of Life in Hereditary Angioedema as a Patient-Centered Approach

以患者为中心的遗传性血管性水肿患者健康相关生活质量综合评估

Yalcin Gungoren, Ezgi; Karabiber, Esra; Yorgun Altunbas, Melek; Can, Salim; Tusuz Onata, Ece; Atik, Ozge; Dikici, Ummugulsum; Meric, Zeynep; Ozanli, Ismail; Amirov, Razin; Ozturk, Necmiye; Bozkurt, Selcen; Eser Simsek, Isil; Kiykim, Ayca; Ozek Yucel, Esra; Bogatekin, Gulhan; Aydogan, Metin; Tepetam, Fatma Merve; Ozdemir, Oner; Yilmaz, Ebru Arik; Mete Gokmen, Emine Nihal; Bilgic-Eltan, Sevgi; Baris, Safa; Ozen, Ahmet; Karakoc-Aydiner, Elif

Comprehensive αβ T-Cell Receptor Repertoire Analysis Reveals a Unique CD8+ TCR Landscape in DOCK8-Deficient Patients

全面的αβ T细胞受体库分析揭示了DOCK8缺陷患者独特的CD8+ TCR图谱

Ceren Bozkurt,Gökhan Cildir,Umran Aba,Rahmi Kutay Erdogan,Nicholas I Warnock 1st,Chung Hoow Kok,Asena Pinar Sefer,Sule Haskologlu,Sidem Didar Tekeoglu,Gülşah Merve Kılınç,Canberk Ipsir,Tugba Arikoglu,Aylin Kont Ozhan,Saliha Esenboga,Ahmet Özen,Elif Karakoç-Aydiner,Sevgi Bilgiç Eltan,Çigdem Aydogmus,Candan Islamoglu,Kübra Baskın,Betul Karaatmaca,Ayse Metin,Deniz Çagdaş,Figen Dogu,Aydan Ikinciogullari,Safa Baris,Baran Erman

Beyond the skin: immunological profiles and infectious complications in ALOX12B-associated autosomal recessive congenital ichthyosis

超越皮肤层面:ALOX12B相关常染色体隐性先天性鱼鳞病的免疫学特征和感染并发症

Sefer, Asena Pinar; Catak, Mehmet Cihangir; An, Isa; Keser Ozturk, Necmiye; Baykal Selcuk, Leyla; Dincer, Oguz Salih; Benamar, Mehdi; Getachew, Feven; Schmitz-Abe, Klaus; Agrawal, Pankaj B; Bayram Catak, Feyza; Erman, Baran; Bilgic Eltan, Sevgi; Karakoc Aydiner, Elif; Ozen, Ahmet; Chatila, Talal; Baris, Safa

Activated PI3Kδ syndrome in inborn errors of immunity: diagnostic strategies and clinical challenges

先天性免疫缺陷中的PI3Kδ激活综合征:诊断策略和临床挑战

Bozkurt, Selcen; Ozturk, Necmiye; Altunbas, Melek Yorgun; Can, Salim; Amirov, Razin; Mahmudov, Ramin; Colak, Burkay Cagan; Karabiber, Esra; Baronio, Manuela; Lougaris, Vassilios; Tessarin, Giulio; Bilgic-Eltan, Sevgi; Ozen, Ahmet; Baris, Safa; Karakoc-Aydiner, Elif

Invasive Mould Infections in Chronic Granulomatous Disease: A Multicenter Study From Türkiye

慢性肉芽肿病中的侵袭性霉菌感染:一项来自土耳其的多中心研究

Ergenc, Zeynep; Eltan, Sevgi Bilgic; Karaaslan, Betul Gemici; Kiykim, Ayca; Tuncay, Sevgi Aslan; Yilmaz, Seyhan; Erdemli, Pinar Canizci; Dizi Isik, Aylin; Parlak, Burcu; Serbes, Mahir; Warris, Adilia; Ozen, Ahmet; Karakoc-Aydiner, Elif; Ozcan, Dilek; Cokugras, Haluk; Baris, Safa; Kepenekli, Eda

Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency

除了皮肤科表现之外:脯氨酸酶缺乏症的多系统受累

Gungoren, Ezgi Yalcin; Meric, Zeynep; Sefer, Asena Pinar; Deveci Ozkan, Asuman; Can, Salim; Babayeva, Royala; Kasap, Nurhan; Nain, Ercan; Ozek Yucel, Esra; Kiykim, Ayca; Bilgic-Eltan, Sevgi; Yucelten, Ayse Deniz; Karakoc-Aydiner, Elif; Ozen, Ahmet; Baris, Safa

Expanding the Clinical Features of Schimke Immuno-osseous Dysplasia: a New Patient with a Novel Variant and Novel Clinical Findings

拓展希姆克免疫骨发育不良的临床特征:一例具有新型变异和新型临床表现的新患者

Alavanda, Ceren; Demir, Şenol; Güven, Serçin; Eltan, Mehmet; Bilgiç Eltan, Sevgi; Sefer, Asena Pınar; Pul, Serim; Güran, Tülay; Alpay, Harika; Arman, Ahmet; Ata, Pınar; Turan, Serap