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

Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobility

OLA1基因的双等位基因变异会导致一种伴有关节过度活动的神经发育障碍。

AlAbdi, Lama; Sezer, Abdullah; Alzahrani, Fatema; Cevik, Sebiha; Demir, Zanyar; Abdullah, Nor Linda; Durukan, Özlem; Dallı, Efe; Hashem, Mais O; Abuyousef, Omar; Aljamal, Bayan; Helaby, Rana; Radwan, Mona; Jaafar, Amal; Alshidi, Tarfa; Salem, Israa; Hamid, Halima; Alhaddad, Bader; Bakur, Khadijah; Taşdelen, Elifcan; Kılıç, Mustafa; Al-Owain, Mohammed; Alhashem, Amal; Bratland, Eirik; Paulsen, Julie; Houge Douzgos, Gunnar; Politi, Anya Revah; Uguen, Kevin; Masson, Emmanuelle; Audebert, Severine; AlAnzi, Talal; Arold, Stefan T; Ergin, Bora; Ibrahim, Leena A; Kaplan, Oktay I; Alkuraya, Fowzan S

Assessment of characteristics and treatment patterns of adult patients with acquired aplastic anemia in Turkiye (PLANE-TR)

土耳其成年获得性再生障碍性贫血患者特征和治疗模式评估(PLANE-TR)

Gunduz, Eren; Ulas, Turgay; Ozkalemkas, Fahir; Toprak, Selami Kocak; Karakulak, Elifcan Aladag; Ar, Muhlis Cem; Gulbas, Zafer; Ozkocaman, Vildan; Aydogan, Merve; Buyukasik, Yahya; Cerme, Melis Dila Ozer; Mehtap, Ozgur; Kucur, Damlanur; Kaya, Emin; Yavasoglu, Irfan; Besisik, Sevgi Kalayoglu; Ersal, Tuba; Yuksel, Merve; Hacioglu, Sibel; Hacibekiroglu, Tuba; Kaya, Ahmet; Sakci, Elif; Yuksel, Meltem Kurt; Ozet, Gulsum; Cagliyan, Gulsum Akgun; Hasanzade, Ulviyya; Salim, Ozan; Pepeler, Mehmet Sezgin; Turgut, Mehmet; Kurekci, Derya Deniz; Giden, Asli Odabasi; Sener, Seray; Calika, Sinem; Dal, Mehmet Sinan

Chronic Myeloid Leukemia Transforming into Acute Lymphoblastic Leukemia in a Patient with Gaucher Disease: A Case Report and Literature Review

一例戈谢病患者慢性粒细胞白血病转化为急性淋巴细胞白血病的病例报告及文献综述

Sayınalp Arslan, Başak; Çatan Erdekli, Fatma Tuğba; Sağlam Ayhan, Arzu; Aladağ Karakulak, Elifcan; Malkan, Ümit Yavuz; Büyükaşık, Yahya

Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability

PRMT9基因双等位基因功能缺失变异会导致一种综合征型智力障碍。

Kröll-Hermi, Ariane; Stoetzel, Corinne; Etard, Christelle; Halabelian, Levon; Schaefer, Elise; Scheidecker, Sophie; Kahrizi, Kimia; Payman, Jamali; Geoffroy, Véronique; Prasad, Megana; Obringer, Cathy; Ruch, Laurie; Girard, Amandine; Zeng, Hong; Li, Fengling; Plassard, Damien; Keime, Céline; Mattioli, Francesca; Feger, Claire; Piton, Amélie; Fujita, Atsushi; Matsumoto, Naomichi; Castro, Matheus Augusto Araujo; Ae, Kim Chong; Ruaud, Lyse; Levy, Jonathan; Dozières, Blandine; Tabet, Anne-Claude; Wentzensen, Ingrid M; Santiago-Sim, Teresa; Yusupov, Roman; Tveten, Kristian; Smeland, Marie Falkenberg; Alkhunaizi, Ebba; Cowing, Gina; Li, Chumei; Wortmann, Saskia B; Feichtinger, René G; Mayr, Johannes A; Gonorazky, Herman; Jing, Gan; Wang, Xiaodong; Wang, Jia; Bierhals, Tatjana; Grinstein, Lev; Herget, Theresia; Ruiz, Anna; Gabau, Elisabeth; Kampmeier, Antje; Kassel, Olivier; Kuechler, Alma; Platzer, Konrad; Jamra, Rami Abou; Woerner, Audrey; Idleburg, Michaela; Kircher, Susanne Gerit; Laccone, Franco; Golob, Barbara; Peterlin, Borut; Čuturilo, Goran; Tasic, Velibor; Kolvenbach, Caroline M; Hildebrandt, Friedhelm; Ramos, Luiza L P; Kok, Fernando; Buck, Cecilia Barbosa; van de Laar, Ingrid M B H; de Man, Stella A; Taşdelen, Elifcan; Sezer, Abdullah; Büke, Afife; Yavuz, Zehra; Çomoğlu, Selim Selçuk; Costin, Carrie; Tran Mau Them, Frédéric; Lacaze, Elodie; Courtin, Thomas; Héron, Delphine; Keren, Boris; Whalen, Sandra; Roume, Joelle; Yang, Yanzhong; Hoffer, Mariëtte J V; van Haeringen, Arie; Najmabadi, Hossein; Arrowsmith, Cheryl H; Strähle, Uwe; Dollfus, Hélène; Muller, Jean

Causes of diagnostic and treatment delays in locally advanced breast cancer: a nationwide multicenter survey and electronic health records analysis in Turkiye

土耳其一项全国多中心调查和电子健康记录分析:局部晚期乳腺癌诊断和治疗延误的原因

Karadeniz Cakmak, Guldeniz; Tali, Ufuk; Balbaloglu, Hakan; Tasdoven, Ilhan; Ozkurt, Enver; Karanlik, Hasan; Zihni, İsmail; Dogan, Lutfi; Akcay, Mufide; Gunay, Semra; Basım, Pelin; Kucuk, G Ozan; Pergel, Ahmet; Maralcan, Gokturk; Ugurlu, M Umit; Gurleyik, Gunay; Akan, Arzu; Uzunkoy, Ali; Yıldırım, Emine; Koksal, Hande; Haberal, Elifcan; Gulcelik, M Ali; Morkavuk, Barıs; Kivilcim, Taner; Ucar, B Imge; Kocer, H Belma; Gumusay, Ozge; Uras, Cihan; Varlı, Metin; Ersoy, Yeliz; Ozcinar, Beyza; Kafadar, Tolga; Badak, Bartu; Dag, Ahmet; Sezer, Atakan; Ozkan Gurdal, Sibel; Agcaoglu, Orhan; Canturk, N Zafer; Yıldız, O Eren; Dalcı, Kubilay; Altinok, Ayse; Aktas, Aysegul; Kebudi, Abut; Dilege, Ece; Batu, H Figen; Vural, Veli; Sakman, Gurhan; Bolukbasi, Yasemin; Emiroglu, Selman; Cabioglu, Neslihan; Deniz, Oguzhan; Filiz, A İlker; Yildirim, A Cihat; Bayir, Duygu; Olmez, Ozgur; Bakkal, Bekir H; Bahadir, Burak; Alicioglu, Banu; Buyukuysal, M Cagatay; Ozaydın, Yigit; Kaya, Hamide; Bakir, Nurullah; Comert, Mustafa; Ozmen, Vahit

Turkish translation, validity, and reliability of the European organization for research and treatment of cancer quality of life-high dose chemotherapy29 in patients undergone hematopoietic stem cell transplantation

欧洲癌症研究与治疗组织生活质量-高剂量化疗29在接受造血干细胞移植患者中的土耳其语翻译、有效性和可靠性

Yildiz Kabak, Vesile; Karahan, Sevilay; Aladağ Karakulak, Elifcan; Düger, Tülin; Atasavun Uysal, Songül; Ipek Erdem, Fulya; Göker, Hakan

Ellis-Van Creveld Syndrome with Severe Mitral Valve Insufficiency Caused by a Homozygous Intragenic Deletion of the EVC Gene

由EVC基因纯合子基因内缺失引起的伴有严重二尖瓣关闭不全的Ellis-Van Creveld综合征

Kolkiran, Abdulkerim; Daşar, Tuğba; Taşdelen, Elifcan; Kaya, Özkan

Confirmation of the Hotspot Variant in MAP3K20 Responsible for Deafness, Ectodermal Dysplasia, Craniosynostosis, Ectrodactyly, and Skeletal Anomaly Spectrum

MAP3K20热点变异的确认,该变异导致耳聋、外胚层发育不良、颅缝早闭、缺指畸形和骨骼异常谱系

Taşdelen, Elifcan; Gönül, Müzeyyen; Öztelcan Gündüz, Bahar; Üner, Çiğdem; Büke, Afife; Sezer, Abdullah

Evaluating SH-SY5Y cells as a dopaminergic neuronal model: morphological, transcriptomic, and proteomic insights

评估SH-SY5Y细胞作为多巴胺能神经元模型:形态学、转录组学和蛋白质组学见解

Işlek Camadan, Eylül Ece; Sarihan, Mehmet; Kasap, Murat; Akpinar, Gürler; Koçyiğit, Elifcan

Novel homozygous frameshift insertion variant in the last exon of the EDARADD causing hypohidrotic ectodermal dysplasia in two siblings: case report and review of the literature

EDARADD基因最后一个外显子中一种新的纯合移码插入变异导致两名同胞患少汗型外胚层发育不良:病例报告及文献综述

Kablan, Ahmet; Tasdelen, Elifcan