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收藏分享 收藏 分享 收藏 分享 收藏 分享 收藏 Predicting homozygous M694V genotype in paediatric FMF: multicentre analysis and scoring system proposal预测儿科家族性地中海热中的纯合子M694V基因型：多中心分析与评分系统提案
Tunce, Eray; Atamyildiz Ucar, Sila; Polat, Merve Cansu; Altug Gucenmez, Ozge; Cakan, Mustafa; Bozkaya Yucel, Burcu; Arslanoglu Aydin, Elif; Dogan Kuzuca, Tutku; Kilic Konte, Elif; Demirhan, Salih; Kucuk, Elif; Arik, Selen Duygu; Vatansever, Goekce; Ozkaya, Ozan; Tekcan, Demet; Nalcacioglu, Huelya; Tanatar, Ayse; Karakas, Hatice Dilara; Acari, Ceyhun; Dogantan, Seyda; Sener, Seher; Kisla Ekinci, Rabia Miray; Garipcin, Pinar; Ercan Emreol, Huelya; Kurt, Tuba; Adiguezel Dundar, Hatice; Girgec, Ahmet; Arif Tutus, Aysen; Koker, Oya; Cevizbas, Selahaddin; Kutlar Tanidir, Merve; Tigrak, Saadet Nilay; Sezer, Muege; Kazanasmaz, Halil; Oeksel, Betuel; Taskin, Raziye Burcu; Guemuessoy Ay, Elif; Coskuner, Taner; oezomay Baykal, Guelcan; Yigit, Ramazan Emre; Tuerkmen, Seyma; Ulu, Kadir; Taskin, Sema Nur; Otar Yener, Guelcin; Demir, Ferhat; Kilic, Sara Sebnem; Guergoeze, Metin Kaya; Aksu, Guezide; Soenmez, Hafize Emine; Tuerkucar, Serkan; Kalyoncu, Mukaddes; Bakkaloglu, Sevcan; Oezkayin, Nese; Kasap Demir, Belde; Uensal, Erbil; Yueksel, Selcuk; Balat, Ayse; Bilginer, Yelda; Pac Kisaarslan, Aysenur; Doenmez, Osman; Aktay Ayaz, Nuray; Oeztuerk, Kuebra; Demir, Selcan; Baglan, Esra; Celikel, Elif; Kasapcopur, Oezguer; Oezen, Seza; Soezeri, Betuel 分享 收藏 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): 扩大土耳其的突变谱并鉴定出16种新变异Aykut, Ayca; Durmaz, Asude; Karaca, Neslihan; Gulez, Nesrin; Genel, Ferah; Celmeli, Fatih; Cogurlu, M. Tuba; Akcan, Mediha; Cicek, Dilek; Cipe, Funda Erol; Kiykim, Ayca; Yildiran, Alisan; Unluhizarci, Kursad; Kilic, Sara Sebnem; Aksu, Guzide; Ardeniz, Omur; Kutukculer, Necil 分享 收藏 Therapeutic modalities and clinical outcomes in a large cohort with LRBA deficiency and CTLA4 insufficiencyTaghizade, Nigar; Babayeva, Royala; Kara, Altan; Karakus, Ibrahim Serhat; Catak, Mehmet Cihangir; Bulutoglu, Alper; Haskologlu, Zehra Sule; Haci, Idil Akay; Dalgic, Ceyda Tunakan; Karabiber, Esra; Eltan, Sevgi Bilgic; Altunbas, Melek Yorgun; Sefer, Asena Pinar; Sezer, Ahmet; Karadag, Sefika Ilknur Kokcu; Arik, Elif; Karali, Zuhal; Kont, Aylin Ozhan; Tuzer, Can; Karaman, Sait; Mersin, Selver Seda; Kasap, Nurhan; Celik, Enes; Uygun, Dilara Fatma Kocacik; Aydemir, Sezin; Kiykim, Ayca; Aydogmus, Cigdem; Yucel, Esra Ozek; Celmeli, Fatih; Karatay, Emrah; Bozkurtlar, Emine; Demir, Semra; Metin, Ayse; Karaca, Neslihan Edeer; Kutukculer, Necil; Aksu, Guzide; Guner, Sukru Nail; Keles, Sevgi; Reisli, Ismail; Demirkol, Yasemin Kendir; Arikoglu, Tugba; Gulez, Nesrin; Genel, Ferah; Kilic, Sara Sebnem; Aytekin, Caner; Keskin, Ozlem; Yildiran, Alisan; Ozcan, Dilek; Altintas, Derya Ufuk; Ardeniz, Fatma Omur; Dogu, Esin Figen; Ikinciogullari, Kamile Aydan; Karakoc-Aydiner, Elif; Ozen, Ahmet; Baris, Safa 分享 收藏 Transient hypogammaglobulinemia of infancy and unclassified syndromic immunodeficiencies are highly common in oesophageal atresia patientsUlman, Hilmican; Ayguen, Ayse; Caglar, Deniz; Dokumcue, Zafer; Topyildiz, Ezgi; Erdener, Ata; Aksu, Guezide; Karaca, Neslihan Edeer; Ozcan, Coskun; Kutukcueler, Necil 分享 收藏 分享 收藏 Neuropsychiatric involvement in juvenile-onset systemic lupus erythematosus: A multicenter study青少年发病的系统性红斑狼疮的神经精神受累: 一项多中心研究Kisaarslan, Aysenur Pac; Cicek, Sumeyra Ozdemir; Batu, Ezgi D.; Sahin, Sezgin; Gurgoze, Metin K.; Cetinkaya, Sibel Balci; Ekinci, Miray Kisla; Atmis, Bahriye; Barut, Kenan; Adrovic, Amra; Agar, Buket Esen; Sahin, Nihal; Demir, Ferhat; Baglan, Esra; Kara, Mehtap Akbalik; Selcuk, Senay Zirhli; Ozdel, Semanur; Comak, Elif; Akkoyunlu, Betul; Yener, Gulcin Otar; Yildirim, Deniz Gezgin; Ozturk, Kubra; Yildiz, Mehmet; Haslak, Fatih; Sener, Seher; Kisaoglu, Hakan; Baba, Ozge; Kizildag, Zehra; Isguder, Rana; Caglayan, Sengul; Bilgin, Raziye B. Guven; Aytac, Guelcin; Yucel, Burcu Bozkaya; Tanatar, Ayse; Sonmez, Hafize E.; Cakan, Mustafa; Kara, Aslihan; Elmas, Ahmet T.; Kilic, Beltinge Demircioglu; Ayaz, Nuray Aktay; Kasap, Belde; Acar, Banu Celikel; Ozkaya, Ozan; Yuksel, Selcuk; Bakkaloglu, Sevcan; Aydog, Ozlem; Aksu, Guzide; Akman, Sema; Donmez, Osman; Bulbul, Mehmet; Buyukcelik, Mithat; Tabel, Yilmaz; Sozeri, Betul; Kalyoncu, Mukaddes; Bilginer, Yelda; Poyrazoglu, Muammer H.; Unsal, Erbil; Kasapcopur, Ozgur; Ozen, Seza; Dusunsel, Ruhan 分享 收藏 Severe combined immunodeficiencies: Expanding the mutation spectrum in Turkey and identification of 12 novel variantsAykut, Ayca; Durmaz, Asude; Karaca, Neslihan; Gulez, Nesrin; Genel, Ferah; Celmeli, Fatih; Ozturk, Gulyuz; Atay, Didem; Aydogmus, Cigdem; Kiykim, Ayca; Aksu, Guzide; Kutukculer, Necil 分享 收藏 Human immune disorder associated with homozygous hypomorphic mutation affecting MALT1B splice variantKutukculer, Necil; Seeholzer, Thomas; O'Neill, Thomas J.; Grass, Carina; Aykut, Ayca; Karaca, Neslihan Edeer; Durmaz, Asude; Cogulu, Ozgur; Aksu, Guzide; Gehring, Torben; Gewies, Andreas; Krappmann, Daniel 分享 收藏 the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation (vol 37, pg 158, 2020)Moriya, Kunihiko; Kadowaki, Saori; Nakano, Tomohiro; Akarcan, Sanem E.; Kutukculer, Necil; Aksu, Guzide; Sasahara, Yoji; Kure, Shigeo; Ohnishi, Hidenori; Casanova, Jean-Laurent; Puel, Anne; Fukao, Toshiyuki 分享 收藏 The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of TranslationMoriya, Kunihiko; Kadowaki, Saori; Nakano, Tomohiro; Akarcan, Sanem E.; Kutukculer, Necil; Aksu, Guzide; Sasahara, Yoji; Kure, Shigeo; Ohnishi, Hidenori; Casanova, Jean-Laurent; Puel, Anne; Fukao, Toshiyuki 分享 收藏 The evaluation of malignancies in Turkish primary immunodeficiency patients; a multicenter studyCekic, Sukru; Metin, Ayse; Aytekin, Caner; Karaca, Neslihan Edeer; Baris, Safa; Karali, Yasin; Kiykim, Ayca; Aydiner, Elif Karakoc; Ozen, Ahmet; Aslan, Torehan; Sevinir, Betul; Aksu, Guzide; Kutukculer, Necil; Kilic, Sara Sebnem 分享 收藏 Abatacept as a Long-Term Targeted Therapy for LRBA DeficiencyKiykim, Ayca; Ogulur, Ismail; Dursun, Esra; Charbonnier, Louis Marie; Nain, Ercan; Cekic, Sukru; Dogruel, Dilek; Karaca, Neslihan Edeer; Cogurlu, Mujde Tuba; Bilir, Ozlem Arman; Cansever, Murat; Kapakli, Hasan; Baser, Dilek; Kasap, Nurhan; Kutlug, Seyhan; Altintas, Derya Ufuk; Al-Shaibi, Ahmad; Agrebi, Nourhen; Kara, Manolya; Guven, Ayla; Somer, Ayper; Aydogmus, Cigdem; Ayaz, Nuray Aktay; Metin, Ayse; Aydogan, Metin; Uncuoglu, Aysen; Patiroglu, Turkan; Yildiran, Alisan; Guner, Sukru Nail; Keles, Sevgi; Reisli, Ismail; Aksu, Guzide; Kutukculer, Necil; Kilic, Sara S.; Yilmaz, Mustafa; Karakoc-Aydiner, Elif; Lo, Bernice; Ozen, Ahmet; Chatila, Talal A.; Baris, Safa 分享 收藏 ILC3 deficiency and generalized ILC abnormalities in DOCK8-deficient patientsEken, 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; Donmez Altuntas, Hamiyet; Canatan, Halit; Oukka, Mohamed; Ozen, Ahmet; Chatila, Talal A.; Keles, Sevgi; Baris, Safa; Unal, Ekrem; Patiroglu, Turkan 分享 收藏 
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