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

Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye

利用全外显子组测序对临床诊断的先天性免疫缺陷患者进行基因评估:来自土耳其免疫缺陷专科研究中心的研究结果

Erman, Baran; Aba, Umran; Ipsir, Canberk; Pehlivan, Damla; Aytekin, Caner; Cildir, Gökhan; Cicek, Begum; Bozkurt, Ceren; Tekeoglu, Sidem; Kaya, Melisa; Aydogmus, Cigdem; Cipe, Funda; Sucak, Gulsan; Eltan, Sevgi Bilgic; Ozen, Ahmet; Barıs, Safa; Karakoc-Aydiner, Elif; Kıykım, Ayca; Karaatmaca, Betul; Kose, Hulya; Uygun, Dilara Fatma Kocacık; Celmeli, Fatih; Arikoglu, Tugba; Ozcan, Dilek; Keskin, Ozlem; Arık, Elif; Aytekin, Elif Soyak; Cesur, Mahmut; Kucukosmanoglu, Ercan; Kılıc, Mehmet; Yuksek, Mutlu; Bıcakcı, Zafer; Esenboga, Saliha; Ayvaz, Deniz Çagdaş; Sefer, Asena Pınar; Guner, Sukrü Nail; Keles, Sevgi; Reisli, Ismail; Musabak, Ugur; Demirbas, Nazlı Deveci; Haskologlu, Sule; Kilic, Sara Sebnem; Metin, Ayse; Dogu, Figen; Ikinciogulları, Aydan; Tezcan, Ilhan

Correction to: Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye

更正:通过全外显子组测序对临床诊断的先天性免疫缺陷患者进行基因评估:来自土耳其免疫缺陷专科研究中心的研究结果

Erman, Baran; Aba, Umran; Ipsir, Canberk; Pehlivan, Damla; Aytekin, Caner; Cildir, Gokhan; Cicek, Begum; Bozkurt, Ceren; Tekeoglu, Sidem; Kaya, Melisa; Aydogmus, Cigdem; Cipe, Funda; Sucak, Gulsan; Eltan, Sevgi Bilgic; Ozen, Ahmet; Barıs, Safa; Karakoc-Aydiner, Elif; Kıykım, Ayca; Karaatmaca, Betul; Kose, Hulya; Uygun, Dilara Fatma Kocacık; Celmeli, Fatih; Arikoglu, Tugba; Ozcan, Dilek; Keskin, Ozlem; Arık, Elif; Aytekin, Elif Soyak; Cesur, Mahmut; Kucukosmanoglu, Ercan; Kılıc, Mehmet; Yuksek, Mutlu; Bıcakcı, Zafer; Esenboga, Saliha; Ayvaz, Deniz Çagdaş; Sefer, Asena Pınar; Guner, Sukrü Nail; Keles, Sevgi; Reisli, Ismail; Musabak, Ugur; Demirbas, Nazlı Deveci; Haskologlu, Sule; Kilic, Sara Sebnem; Metin, Ayse; Dogu, Figen; Ikinciogulları, Aydan; Tezcan, Ilhan

Primary immune regulatory disorders (PIRD): expanding the mutation spectrum in Turkey and identification of sixteen novel variants

原发性免疫调节障碍(PIRD):土耳其突变谱的扩大及16种新变异的鉴定

Aykut, Ayca; Durmaz, Asude; Karaca, Neslihan; Gulez, Nesrin; Genel, Ferah; Celmeli, Fatih; Cogurlu, M Tuba; Akcan, Mediha; Cicek, Dilek; Cipe, Funda Erol; Kiykim, Ayca; Yıldıran, Alisan; Unluhizarci, Kursad; Kilic, Sara Sebnem; Aksu, Guzide; Ardeniz, Omur; Kutukculer, Necil

A Novel Variant of the PIK3R1 Gene Mutation Associated With SHORT Syndrome and Agammaglobulinemia

一种与SHORT综合征和无丙种球蛋白血症相关的PIK3R1基因突变新变异

Syed Iqbaluddin, Juwairiya; Cipe, Funda; Al-Hammadi, Suleiman; Yavuz, Sinan; Francis, Nader; Sherif, Amal

A Rare Genetic Intersection: Down Syndrome With Coexisting Spinal Muscular Atrophy

罕见的基因交叉:唐氏综合征合并脊髓性肌萎缩症

Gupta, Bhavna; Mohamed, Madiha; Sohal, Aman; Kamalakannan, Theekshitha K; Balouch, Batool; Cipe, Funda

Subcutaneous Fat Necrosis of the Newborn After Whole-Body Cooling for Birth Asphyxia

新生儿全身降温治疗出生窒息后皮下脂肪坏死

Elmoghanni, Yamen; Aldhafer, Asma; Khalaf, Mona; Cipe, Funda; Komala, Gangaiah; Saleem, Tausif; Yavuz, Sinan

Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency

CD27 和 CD70 缺陷患者的扩展临床和免疫表型及移植结果

Ghosh, Sujal; Köstel Bal, Sevgi; Edwards, Emily S J; Pillay, Bethany; Jiménez Heredia, Raúl; Erol Cipe, Funda; Rao, Geetha; Salzer, Elisabeth; Zoghi, Samaneh; Abolhassani, Hassan; Momen, Tooba; Gostick, Emma; Price, David A; Zhang, Yu; Oler, Andrew J; Gonzaga-Jauregui, Claudia; Erman, Baran; Metin, Ayse; Ilhan, Inci; Haskologlu, Sule; Islamoglu, Candan; Baskin, Kubra; Ceylaner, Serdar; Yilmaz, Ebru; Unal, Ekrem; Karakukcu, Musa; Berghuis, Dagmar; Cole, Theresa; Gupta, Aditya K; Hauck, Fabian; Kogler, Hubert; Hoepelman, Andy I M; Baris, Safa; Karakoc-Aydiner, Elif; Ozen, Ahmet; Kager, Leo; Holzinger, Dirk; Paulussen, Michael; Krüger, Renate; Meisel, Roland; Oommen, Prasad T; Morris, Emma; Neven, Benedicte; Worth, Austen; van Montfrans, Joris; Fraaij, Pieter L A; Choo, Sharon; Dogu, Figen; Davies, E Graham; Burns, Siobhan; Dückers, Gregor; Becker, Ruy Perez; von Bernuth, Horst; Latour, Sylvain; Faraci, Maura; Gattorno, Marco; Su, Helen C; Pan-Hammarström, Qiang; Hammarström, Lennart; Lenardo, Michael J; Ma, Cindy S; Niehues, Tim; Aghamohammadi, Asghar; Rezaei, Nima; Ikinciogullari, Aydan; Tangye, Stuart G; Lankester, Arjan C; Boztug, Kaan

ILC3 deficiency and generalized ILC abnormalities in DOCK8-deficient patients

DOCK8缺陷患者的ILC3缺乏和普遍性ILC异常

Eken, Ahmet; Cansever, Murat; Okus, Fatma Zehra; Erdem, Serife; Nain, Ercan; Azizoglu, Zehra Busra; Haliloglu, Yesim; Karakukcu, Musa; Ozcan, Alper; Devecioglu, Omer; Aksu, Guzide; Arikan Ayyildiz, Zeynep; Topal, Erdem; Karakoc Aydiner, Elif; Kiykim, Ayca; Metin, Ayse; Cipe, Funda; Kaya, Aysenur; Artac, Hasibe; Reisli, Ismail; Guner, Sukru N; Uygun, Vedat; Karasu, Gulsun; Dönmez Altuntas, Hamiyet; Canatan, Halit; Oukka, Mohamed; Ozen, Ahmet; Chatila, Talal A; Keles, Sevgi; Baris, Safa; Unal, Ekrem; Patiroglu, Turkan

Ozone Treatment for Chronic Anal Fistula: It Is Not Promising

臭氧治疗慢性肛瘘:效果并不理想

Ozturk, Alaattin; Atalay, Talha; Cipe, Gokhan; Luleci, Nurettin

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

儿童期结核病的根本原因在于先天性和获得性免疫缺陷。

Boisson-Dupuis, Stéphanie; Bustamante, Jacinta; El-Baghdadi, Jamila; Camcioglu, Yildiz; Parvaneh, Nima; El Azbaoui, Safaa; Agader, Aomar; Hassani, Amal; El Hafidi, Naima; Mrani, Nidal Alaoui; Jouhadi, Zineb; Ailal, Fatima; Najib, Jilali; Reisli, Ismail; Zamani, Adil; Yosunkaya, Sebnem; Gulle-Girit, Saniye; Yildiran, Alisan; Cipe, Funda Erol; Torun, Selda Hancerli; Metin, Ayse; Atikan, Basak Yildiz; Hatipoglu, Nevin; Aydogmus, Cigdem; Kilic, Sara Sebnem; Dogu, Figen; Karaca, Neslihan; Aksu, Guzide; Kutukculer, Necil; Keser-Emiroglu, Melike; Somer, Ayper; Tanir, Gonul; Aytekin, Caner; Adimi, Parisa; Mahdaviani, Seyed Alireza; Mamishi, Setareh; Bousfiha, Aziz; Sanal, Ozden; Mansouri, Davood; Casanova, Jean-Laurent; Abel, Laurent