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Select record 21
ArticlesPeer ReviewedFull Text
Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene
Author / Creator:Göktürk, Bahar ; Reisli, İsmail ; Çalışkan, Ümran ; Oleaga-Quintas, Carmen ; Deswarte, Caroline ; Turul-Özgür, Tuba ; Burgucu, Durmuş ; Migaud, Melanie ; Casanova, Jean-Laurent ; Picard, Capucine ; Bustamante, Jacinta
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2016, Vol.58 (3), p.331-336
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Correction: Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
Author / Creator:Thijssen, Peter E. ; Ito, Yuya ; Grillo, Giacomo ; Wang, Jun ; Velasco, Guillaume ; Nitta, Hirohisa ; Unoki, Motoko ; Yoshihara, Minako ; Suyama, Mikita ; Sun, Yu ; Lemmers, Richard J. L. F. ; de Greef, Jessica C. ; Gennery, Andrew ; Picco, Paolo ; Kloeckener-Gruissem, Barbara ; Güngör, Tayfun ; Reisli, Ismail ; Picard, Capucine ; Kebaili, Kamila ; Roquelaure, Bertrand ; Iwai, Tsuyako ; Kondo, Ikuko ; Kubota, Takeo ; van Ostaijen-Ten Dam, Monique M. ; van Tol, Maarten J. D. ; Weemaes, Corry ; Francastel, Claire ; van der Maarel, Silvère M. ; Sasaki, Hiroyuki
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2016-06, Vol.7 (1), p.1-2, Article 12003
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Multicentric analysis of childhood tuberculosis in Turkey
Author / Creator:Pekcan, Sevgi ; Tana Aslan, Ayşe ; Kiper, Nural ; Uysal, Gülnar ; Gürkan, Fuat ; Patıroğlu, Türkan ; Oztürk, Mustafa ; Ozen, Metehan ; Dağlı, Elif ; Doğru, Ulker ; Kocabaş, Emine ; Sarısoy, Ozlem ; Koçak, Abdülkadir ; Uzuner, Nevin ; Reisli, Ismail ; Bolat, Ayşe ; Uğuz, Ayşen ; Karakelleoğlu, Cahit ; Uyan, Ayten ; Köse, Mehmet ; Cinel, Güzin ; Cobanoğlu, Nazan ; Yalçın, Ebru ; Doğru, Deniz ; Ozçelik, Uğur
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2013-03, Vol.55 (2), p.121-129
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Chilaiditi syndrome as a cause of respiratory distress
Author / Creator:KELES, Sevgi ; ARTAC, Hasibe ; REISLI, Ismail ; ALP, Hayrullah ; KOC, Osman
Publisher:Heidelberg: Springer
Journal title:European journal of pediatrics, 2006-06, Vol.165 (6), p.367-369
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Primary immune deficiency disease awareness among a group of Turkish physicians
Author / Creator:Yüksek, Mutlu ; Ikincioğullari, Aydan ; Doğu, Figen ; Elhan, Atilla ; Yüksek, Nazmiye ; Reisli, Ismail ; Babacan, Emel
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2010-07, Vol.52 (4), p.372-377
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Late-presenting congenital diaphragmatic hernia associated with ectopic thoracic kidney
Author / Creator:KELES, Sevgi ; ARTAC, Hasibe ; ELMACI, Midhat ; REISLI, Ismail ; DILSIZ, Alaaddin
Publisher:Heidelberg: Springer
Journal title:European journal of pediatrics, 2006-08, Vol.165 (8), p.571-572
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Evaluation of immunological abnormalities in patients with rare syndromes
Author / Creator:Gul, Yahya ; Kapaklı, Hasan ; Aytekin, Selma Erol ; Guner, Şukru Nail ; Keles, Sevgi ; Zamani, Ayşe Gül ; Yıldırım, Mahmut Selman ; Reisli, Ïsmail
Publisher:Poland: Termedia Publishing House
Journal title:Central-European journal of immunology, 2022-01, Vol.47 (4), p.299-307
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Select record 28
ArticlesPeer ReviewedFull Text
Investigation of Transcription Factor and Cytokine Gene Expression Levels in Helper T Cell Subsets Among Turkish Patients Diagnosed with ICF2 (Novel ZBTB24 gene Variant) and ICF3 (CDCA7 Variant) Syndr...
Author / Creator:Duran, Tugce ; Karaselek, Mehmet Ali ; Kuccukturk, Serkan ; Gul, Yahya ; Sahin, Ali ; Guner, Sukru Nail ; Keles, Sevgi ; Reisli, Ismail
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2025-12, Vol.45 (1), p.16-16, Article 16
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Select record 29
ArticlesPeer ReviewedFull Text
(Un)Awareness of allergy
Author / Creator:Kalpaklioglu, A Fusun ; Kalkan, Ilkay ; Akcay, Ahmet ; Reisli, Ismail ; Can, Demet ; Uzuner, Nevin ; Yuksel, Hasan ; Kirmaz, Cengiz ; Gulen, Figen ; Ediger, Dane
Publisher:BioMed Central Ltd
Journal title:The World Allergy Organization journal, 2011-11, Vol.4 (11), p.170-178
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Select record 30
ArticlesPeer ReviewedFull Text
Evaluation of Clinical and Immunological Characteristics of Children with Common Variable Immunodeficiency
Author / Creator:Alkan, Gülsüm ; Reisli, İsmail ; Keles, Sevgi
Publisher:Cairo, Egypt: Hindawi Publishing Corporation
Journal title:International journal of pediatrics, 2018-01, Vol.2018 (2018), p.1-8
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STK4 deficiency and EBV-associated lymphoproliferative disorders, emphasis on histomorphology, and review of literature
Author / Creator:Saglam, Arzu ; Cagdas, Deniz ; Aydin, Burca ; Keles, Sevgi ; Reisli, Ismail ; Arslankoz, Sehbal ; Katipoglu, Kubra ; Uner, Aysegul
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Virchows Archiv : an international journal of pathology, 2022-02, Vol.480 (2), p.393-401
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Select record 32
ArticlesPeer ReviewedFull Text
Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism
Author / Creator:IKINCIOGULLARI, Aydan ; TEKIN, Mustafa ; DOGU, Figen ; REISLI, Ismail ; TANIR, Gonul ; YI, Zanhua ; GARRISON, Nanibaa ; BRILLIANT, Murray H ; BABACAN, Emel
Publisher:Heidelberg: Springer
Journal title:European journal of pediatrics, 2005-03, Vol.164 (3), p.177-179
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Select record 33
ArticlesPeer ReviewedFull Text
Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
Author / Creator:Thijssen, Peter E. ; Ito, Yuya ; Grillo, Giacomo ; Wang, Jun ; Velasco, Guillaume ; Nitta, Hirohisa ; Unoki, Motoko ; Yoshihara, Minako ; Suyama, Mikita ; Sun, Yu ; Lemmers, Richard J. L. F. ; de Greef, Jessica C. ; Gennery, Andrew ; Picco, Paolo ; Kloeckener-Gruissem, Barbara ; Güngör, Tayfun ; Reisli, Ismail ; Picard, Capucine ; Kebaili, Kamila ; Roquelaure, Bertrand ; Iwai, Tsuyako ; Kondo, Ikuko ; Kubota, Takeo ; van Ostaijen-Ten Dam, Monique M. ; van Tol, Maarten J. D. ; Weemaes, Corry ; Francastel, Claire ; van der Maarel, Silvère M. ; Sasaki, Hiroyuki
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2015-07, Vol.6 (1), p.7870-7870, Article 7870
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Select record 34
ArticlesPeer ReviewedFull Text
A Burkitt's lymphoma case with eyelid, renal and pulmonary involvement
Author / Creator:Köksal, Yavuz ; Reisli, Ismail ; Uçar, Canan ; Avunduk, Mustafa ; Açikgözoğlu, Saim ; Calişkan, Umran
Publisher:Turkey: Hacettepe University Faculty of Medicine
Journal title:Turkish journal of pediatrics, 2006-04, Vol.48 (2), p.181-184
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Select record 35
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C1q nephropathy: a case with severe atopic dermatitis
Author / Creator:EKIM, Mesiha ; IKINCIOGULLARI, Aydan ; BERBEROGLU, Merih ; TULUNAY, Ozden ; SENCER, Huriye ; OZKAYA, Nuray ; REISLI, Ismail ; TUMER, Necmiye
Publisher:Heidelberg: Springer
Journal title:Pediatric nephrology (Berlin, West), 2002-07, Vol.17 (7), p.547-549
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ArticlesPeer ReviewedFull Text
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 Türk...
Author / Creator: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
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2025-12, Vol.45 (1), p.41, Article 41
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Select record 37
ArticlesPeer ReviewedFull Text
Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis
Author / Creator:Kasap, Nurhan ; Kara, Altan ; Celik, Velat ; Bilgic Eltan, Sevgi ; Akay Haci, Idil ; Kose, Hulya ; Aygun, Ayse ; Akkelle, Emre ; Yakici, Nalan ; Guner, Sukru Nail ; Reisli, Ismail ; Keles, Sevgi ; Cekic, Sukru ; Kilic, Sara Sebnem ; Karaca, Neslihan Edeer ; Gulez, Nesrin ; Genel, Ferah ; Ozen, Ahmet ; Yucelten, Ayse Deniz ; Karakoc-Aydiner, Elif ; Schmitz-Abe, Klaus ; Baris, Safa
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2023-11, Vol.43 (8), p.1882-1890
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Select record 38
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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
Author / Creator: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
Publisher:New York: Springer US
Journal title:Journal of clinical immunology, 2024-10, Vol.44 (7), p.157-157, Article 157
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Select record 39
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Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor β1 Deficiency
Author / Creator:Ouederni, Monia ; Sanal, Ozden ; Ikincioğullari, Aydan ; Tezcan, Ilhan ; Dogu, Figen ; Sologuren, Ithaisa ; Pedraza-Sánchez, Sigifredo ; Keser, Melike ; Tanir, Gonul ; Nieuwhof, Chris ; Colino, Elena ; Kumararatne, Dinakantha ; Levy, Jacov ; Kutukculer, Necil ; Aytekin, Caner ; Herrera-Ramos, Estefanía ; Bhatti, Micah ; Karaca, Neslihan ; Barbouche, Ridha ; Broides, Arnon ; Goudouris, Ekaterini ; Franco, José Luis ; Parvaneh, Nima ; Reisli, Ismail ; Strickler, Alexis ; Shcherbina, Anna ; Somer, Ayper ; Segal, Anthony ; Angel-Moreno, Alfonso ; Lezana-Fernandez, José Luis ; Bejaoui, Mohamed ; Valle, Miriam Bobadilla-Del ; Kachboura, Salem ; Sentongo, Timothy ; Ben-Mustapha, Imen ; Bustamante, Jacinta ; Picard, Capucine ; Puel, Anne ; Boisson-Dupuis, Stéphanie ; Abel, Laurent ; Casanova, Jean-Laurent ; Rodríguez-Gallego, Carlos
Publisher:Oxford: Oxford University Press
Journal title:Clinical infectious diseases, 2014-01, Vol.58 (2), p.204-213
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Select record 40
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Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects
Author / Creator:Weemaes, Corry M R ; van Tol, Maarten J D ; Wang, Jun ; van Ostaijen-ten Dam, Monique M ; van Eggermond, Marja C J A ; Thijssen, Peter E ; Aytekin, Caner ; Brunetti-Pierri, Nicola ; van der Burg, Mirjam ; Graham Davies, E ; Ferster, Alina ; Furthner, Dieter ; Gimelli, Giorgio ; Gennery, Andy ; Kloeckener-Gruissem, Barbara ; Meyn, Stephan ; Powell, Cynthia ; Reisli, Ismail ; Schuetz, Catharina ; Schulz, Ansgar ; Shugar, Andrea ; van den Elsen, Peter J ; van der Maarel, Silvère M
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-11, Vol.21 (11), p.1219-1225
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Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene

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Correction: Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

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Multicentric analysis of childhood tuberculosis in Turkey

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Chilaiditi syndrome as a cause of respiratory distress

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Primary immune deficiency disease awareness among a group of Turkish physicians

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Late-presenting congenital diaphragmatic hernia associated with ectopic thoracic kidney

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Evaluation of immunological abnormalities in patients with rare syndromes

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Investigation of Transcription Factor and Cytokine Gene Expression Levels in Helper T Cell Subsets Among Turkish Patients Diagnosed with ICF2 (Novel ZBTB24 gene Variant) and ICF3 (CDCA7 Variant) Syndr...

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(Un)Awareness of allergy

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Evaluation of Clinical and Immunological Characteristics of Children with Common Variable Immunodeficiency

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STK4 deficiency and EBV-associated lymphoproliferative disorders, emphasis on histomorphology, and review of literature

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Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism

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Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome

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A Burkitt's lymphoma case with eyelid, renal and pulmonary involvement

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C1q nephropathy: a case with severe atopic dermatitis

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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 Türk...

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Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis

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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

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Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor β1 Deficiency

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Heterogeneous clinical presentation in ICF syndrome: correlation with underlying gene defects

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